Chromosomal disorder of the fetus. Echographic signs of chromosomal abnormalities in the development of the fetus. Frequent chromosomal abnormalities

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The presence of ideal analyzes and the remarkable well-being of a pregnant woman, her young age and an impeccable history (information about previous diseases, living conditions, surgery, injuries, chronic pathology, heredity, etc.) are not yet a 100% guarantee that the child does not have chromosomal abnormalities.

Chromosomal abnormalities of the fetus. signs

Signs of the presence of a chromosomal abnormality (HA) of the fetus during pregnancy:

• a threat or, at least, pulling pains in the lower abdomen from early pregnancy and throughout pregnancy,
• low levels of AFP and PAPP-A and an increase in term,
• fetal neck fold more than 2 mm at term,
• low fetal activity (),
• an increase in the pelvis of the kidneys according to ultrasound on time,
• lagging growth of tubular bones, starting from,
• earlier aging of the placenta,
• placental hypoplasia,
• fetal hypoxia,
• poor dopplerometry and,
• oligohydramnios / polyhydramnios.

Each of these signs individually and even all together can be variants of the norm.

Diagnosis of HA

Of the usual analyzes, the first screening or double test is the most informative. It must be done strictly on time. It consists of an ultrasound of the fetus (the measurement of the neck fold is especially important) and a blood test for AFP, PAPP-A and hCG.

The analysis does not give an exact answer to the question of the presence or absence of CA. His task is to calculate the risks depending on the results, as well as the age and history of the pregnant woman. The second, the so-called "triple test", is not informative for detecting CA. It is possible to find out exactly whether the unborn child has CA only with the help of invasive methods - chorion biopsy, cord blood sampling, analysis of amniotic fluid. The purpose of these tests is to determine the karyotype of the fetus. Accuracy - 98%. The risk of miscarriage is 1-2%. HA are not treated. After the detection of HA, all that medicine can offer is termination of pregnancy.

To do this analysis or not?

When making a decision, the following questions must be answered:

• Does the risk of miscarriage outweigh the risk of HA in the fetus?
• will you terminate the pregnancy if HA is detected?
• what kind of HA do doctors suspect, what is the prognosis for the child's health?
• Are you ready to have a child with HA?

Causes of chromosomal abnormalities

The exact cause of HA is not known. An increased risk exists if:

• mother and father are over 35 years of age,
• have a ha blood relatives,
• there is a balanced translocation in blood relatives or parents,
• parents work in hazardous industries, the family lives in an ecologically unfavorable area.

The mechanism of occurrence of HA

CA occurs in the fetus at the time of zygote formation, i.e. at the fusion of the egg and sperm. Maternal and paternal cells each carry 23 chromosomes (23 from mom and 23 from dad). Both cells may already carry "broken" chromosomes (even if mom and dad are absolutely healthy). Failure can also occur at the time of the fusion of two absolutely healthy parental cells. In this case, the chromosomes of the fetus "disperse" incorrectly. This process has not yet been studied and cannot be controlled.

XA - chromosomal syndromes

More than 300 chromosomal syndromes have been studied and described.

Given that a person has 23 paired chromosomes and there are several types of aberration, the number of chromosomal syndromes that are not described in the literature and reappear is not limited.

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Aberrations can be different: complete and partial trisomies, deletions, monosomies, translocation mosaicism, etc. The severity of signs in chromosomal syndrome depends on the type of aberration. The most favorable type is a balanced translocation. People with such changes are no different from ordinary ones, their peculiarity can only be detected by karyotyping, but they have an increased risk of having children with chromosomal syndromes - from 10 to 50% (the average risk in the population is 5%).

The next least "traumatic" type of aberration is mosaicism, in which a chromosomal disorder does not appear in all cells and/or organs. Partial trisomies and deletions already give significant malformations, sometimes incompatible with life.

The most severe type is complete trisomy or monosomy of the chromosome.

Most pregnancies with a fetal chromosomal pathology are rejected by the body itself at the earliest dates or at a period of 20-23 weeks, since with a chromosomal pathology of the fetus, there is a high probability of various pregnancy pathologies (miscarriage, threatened miscarriage, uterine hypertonicity, premature aging of the placenta, toxicosis, gestosis, fetal hypoxia, etc.). Also, many babies do not live up to a year due to multiple malformations. The average life expectancy of people with CA is 30 years, but there are described cases of patients with CA who lived to 60 years or more.

Development of people with CA

People with chromosomal syndromes can be either severely disabled or absolutely full-fledged members of society who have received a full education and have a regular job. It all depends on the type of aberration, the general condition of the body and the work of relatives and friends. In most cases, people with chromosomal syndromes can serve themselves, communicate, and do whatever work they can. The intellect is reduced, there are chronic diseases of the organs and systems of the body.

The concept of "ultrasound marker of chromosomal pathology" was introduced in 1985 by B. Benacerraf et al., who described thickening of the cervical fold in fetuses with Down's syndrome.

The cervical fold or collar space is the accumulation of subcutaneous fluid on rear surface fetal neck in the first trimester of pregnancy. During the second trimester of pregnancy, the neck fold usually resolves, but in some cases it can turn into either cervical edema or cystic hygromas, with or without generalized edema.

Normally, the width of the cervical fold is 2-3 mm. An increase of more than 3 mm in 1/3 of cases indicates the presence of a chromosomal pathology - Down syndrome (50%), Edwards syndrome (24%), Turner syndrome (10%), Patau syndrome (5%), other pathology (11%).

The optimal gestational age for measuring the width of the neck crease is 11-13-14 weeks, CTE 45-84 mm. The measurement should be made in the neutral position of the fetal head: extension of the head can increase the value of the collar space by 0.6 mm, flexion of the head can decrease the value by 0.4 mm. The magnification must be maximum.

The largest perpendicular distance between the internal contours of the cervical transparency is measured. If it is impossible to differentiate the skin of the fetus and the amnion, it is necessary to wait for the moment when the fetus makes a movement and moves away from the amnion. An alternative way is to ask the pregnant woman to cough or lightly tap on the pregnant woman's abdominal wall.

Measurements are taken three times, for the calculation is used highest value size. In 5-10% of cases, the umbilical cord is found wrapped around the fetal neck, which can greatly complicate measurement. In such cases, 2 measurements are used: above and below the cord entanglement, the average of these two measurements is used to calculate the risks.

Diagnosis of only an enlarged neck fold
does not yet indicate 100% presence of Down syndrome in the fetus!

This indicator only makes it possible to single out a risk group for the birth of children with hereditary pathology among pregnant women. Pregnant women who have this ultrasonic marker of chromosomal pathology are found to undergo additional examinations in specialized institutions.

In addition to measuring the neck fold, the following ultrasound markers are used to diagnose chromosomal pathology at the end of the first trimester of pregnancy:

1. Measurement of the length of the nasal bones of the fetus. This symptom is most specific for Down syndrome (52-80% of cases), Edwards syndrome (57-75%), Turner syndrome (50-66%), Patau syndrome (32-50%).

   The length of the nasal bones is normal for the duration of pregnancy
   gestational age	the length of the nasal bones of the fetus
   12-13 weeks	less than 2 mm
   14-15 weeks	3 mm
   16-17 weeks	3.6mm
   18-19 weeks	5.2mm
   20-21 weeks	5.7 mm
   22-23 weeks	6 mm
   24-25 weeks	6.9 mm
   26-27 weeks	7.5mm
   28-29 weeks	8.4mm
   30-31 weeks	8.7mm
   32-33 weeks	8.9 mm
   34-35 weeks	9 mm

2. Assessment of blood flow in the Arantzian (venous) duct. Abnormalities in the waveform of blood flow in the duct of Arantia are found in 80% of fetuses with Down's syndrome and only in 5% of chromosomally normal fetuses.
3. Hyperechoic bowel - chromosomal abnormalities occur in 10-67% of cases
4. Reducing the size of the maxillary bone
5. Enlargement of the bladder ("megacystitis")
6. Moderate tachycardia in the fetus
7. Choroid plexus cysts of the ventricles of the brain
8. Cystic hygroma (swelling at the level of the neck and back of the fetus), more than half of the cases due to chromosomal abnormalities
9. Hyperechoic formations on the papillary muscles of the heart
10. hydronephrosis
11. Shortening of tubular bones
12. Umbilical cord cysts
13. The only umbilical artery (in a large percentage of cases it is combined with chromosomal abnormalities in the fetus)
14. Facial dysmorphias
15. Abnormal amount of amniotic fluid. The amount of water is considered normal if the diameter of the deepest pocket is 3-8 cm. A decrease in the volume of amniotic fluid is often observed with fetal hypotrophy, anomalies of the kidneys and urinary system, their complete absence - with kidney agenesis. Polyhydramnios is possible with abnormalities of the gastrointestinal tract, infection of the fetus.

    The relationship between the number of detected echographic markers
    and frequency of chromosomal abnormalities

Pregnancy is a long-awaited state of a woman. However, this is also a period of worries. After all, the normal course of pregnancy is far from a guarantee that the baby will be born without pathologies. On the early term diagnostic measures are necessarily taken to help exclude chromosomal pathologies.

Anomalies of the fetal chromosomal type are the appearance of an additional (extra) chromosome or a violation in the structure of one of the chromosomes. This happens even during fetal development.

So, everyone knows about Down syndrome. This is a disease that develops in utero. It is connected with the appearance of an extra chromosome directly in the 21st pair. Thanks to the diagnosis, as well as external manifestations of the course of pregnancy, such a pathology can be detected even at the early stages of fetal development.

Causes of chromosomal abnormalities

Chromosomal defects can develop for various reasons. Often these are health problems in the mother:

• infections;
• problems with the endocrine system;
• diseases of any internal organs;
• toxicosis during pregnancy;
• previous abortions;
• risk of miscarriage.

An important role is played by ecology, which constantly affects the woman's body, as well as environmental features:

An important hereditary factor. Gene mutations, chromosome aberrations - common causes development of anomalies.

Already when planning pregnancy, you need to think about a balanced diet:

1. All the main ingredients must be present in sufficient quantities on the menu (vitamins, fats, minerals, carbohydrates and proteins).
2. You need to take care of the presence in the menu of products with micronutrients (polyunsaturated fatty acids, trace elements important for the body). Thus, a deficiency of such an element as iodine in the body can lead to a disruption in the development of the brain of an unborn child.

Risk factors

There are many risk factors for developing chromosomal abnormalities. On the part of the mother, these are such problems as:

There are also risks from the fetus:

• developmental delay.
• Multiple pregnancy.
• Anomalies in presentation.

Medications, pregnancy and chromosomal abnormalities

Fetus is affected by many medications that a woman takes during pregnancy:

• aminoglycosides have a toxic effect on the development of the ear and kidneys;
• aloe helps to increase intestinal motility;
• antihistamines can cause tremors and markedly reduce blood pressure;
• androgens - the cause of the development of fetal defects;
• anticoagulants can cause problems with bone formation, as well as encephalopathy;
• atropine is the cause of brain dysfunction;
• belladonna causes tachycardia in the fetus;
• means to reduce pressure significantly reduce the blood flow to the placenta;
• diazepam can harm the appearance of the unborn child;
• corticosteroids inhibit the functional purpose of the adrenal glands, leading to encephalopathy;
• caffeine damages the fetal liver;
• lithium develops heart defects;
• opiates affect brain activity;
• anticonvulsants significantly delay the intrauterine development of the baby;
• tetracyclines lead to skeletal abnormalities.

signs

The process of development of anomalies in the prenatal state has not been sufficiently studied today. That is why the signs of anomalies are considered conditional. Among them:

All these signs can also be the norm for the development of the fetus, subject to a similar feature of the body of the child or mother. Blood tests, invasive techniques and ultrasound will help to make sure that chromosomal abnormalities are present as accurately as possible.

Diagnostics

The main task of diagnostic measures that are prescribed during pregnancy is to identify fetal malformations. Today, there are a huge number of methods that allow you to accurately diagnose or exclude the presence of anomalies.

Non-invasive methods:

• Ultrasound is prescribed for the entire pregnancy 3 times (up to 12 weeks, at 20-22 weeks and 30-32 weeks).
• Determination of biochemical markers in blood serum. hCG, protein A - deviations from the norm may indicate ectopic pregnancy or the development of chromosomal abnormalities. Alpha-fetoprotein - reduced level indicates the presence of a risk of developing Down syndrome, and an elevated level will tell about a possible defect in the central nervous system. Estriol - normally should gradually increase with increasing gestational age.

Invasive techniques:

Already after the birth of a child, any methods from the arsenal of modern medicine can be used to determine anomalies:

• radiation methods (CT, CTG, X-ray, ultrasound);
• endoscopic;
• research of biological materials;
• functional tests.

Possible pathologies

The development of many anomalies is observed in specific periods of pregnancy:

• 3 weeks - ectopia of the heart, absence of limbs, as well as fusion of the feet;
• 4 weeks - no feet, hemivertebra;
• 5 weeks - splitting of the bones of the face, as well as such terrible problems as the absence of hands, feet;
• 6 weeks - complete absence of the lower jaw, as well as heart disease, lens cataract;
• 7 weeks - the absolute absence of fingers, the development of a round head, an irreparable splitting of the palate from above, as well as epicanthus;
• 8 weeks - absence of nasal bone, shortening of fingers.

The consequences of the development of chromosomal problems are very diverse. It can be not only external deformities, but also lesions, disorders of the central nervous system. The resulting pathologies depend on what kind of chromosome anomaly occurred:

1. If the quantitative characteristics of chromosomes are violated, Down syndrome may occur (in 21 pairs there is one extra chromosome), Patau syndrome (a severe pathology with numerous defects), Edwards syndrome (often occurs in children of elderly mothers).
2. Violation of the number of sex chromosomes. Then the development of Shereshevsky-Turner syndrome is likely (development of the sex glands according to the wrong type), polysomy is characterized by various problems, Klinefelter's syndrome (violations in boys on the X chromosome).
3. Polyploidy usually ends in death in the womb.

Gene mutations are not yet fully understood by scientists. The reasons for their development are still being investigated by experts. But already in 5% of all pregnant women in the world, genetic abnormalities of the fetus are detected.

Chromosomal diseases or syndromes are a group of congenital pathological conditions manifested by multiple malformations, differing in their clinical picture, often accompanied by severe disorders of mental and somatic development. The main defect is various degrees of intellectual insufficiency, which can be complicated by visual, hearing, and musculoskeletal disorders, more pronounced than intellectual defects, speech, emotional and behavioral disorders.

Diagnostic signs of chromosomal syndromes can be divided into three groups:

non-specific, i.e. such as severe mental retardation, combined with dysplasia, congenital malformations and craniofacial anomalies;

signs characteristic of individual syndromes;

pathognomonic for a particular syndrome, for example, specific crying in the "cat's cry" syndrome.

Chromosomal diseases do not follow the Mendeleian patterns of disease transmission to offspring and in most cases are detected sporadically, as a result of a mutation in the germ cell of one of the parents.

Chromosomal diseases can be inherited if the mutation is present in all cells of the parent organism.

The mechanisms underlying genomic mutations include:

non-disjunction - chromosomes that were supposed to separate during cell division remain connected and belong to the same pole;

"anaphase lag" - the loss of a single chromosome (monosomy) can occur during anaphase, when one chromosome can lag behind the rest;

polyploidization - in each cell the genome is presented more than twice.

Factors that increase the risk of having children with chromosomal diseases

The causes of chromosomal diseases have not been sufficiently studied so far. There are experimental data on the influence on the mutation process of such factors as: the action of ionizing radiation, chemical substances, viruses. Other reasons for non-disjunction of chromosomes can be: seasonality, the age of the father and mother, the order of birth of children, medication during pregnancy, hormonal disorders, alcoholism, etc. The genetic determination of non-disjunction of chromosomes is not excluded to a certain extent. Let us repeat, however, that the reasons for the formation of genomic and chromosomal mutations at the early stages of embryonic development have not yet been fully elucidated.

Maternal age can be attributed to biological factors that increase the risk of having children with chromosomal abnormalities. The risk of having a sick child increases especially sharply after 35 years. This is characteristic of any chromosomal disease, but is most clearly observed for Down's disease.

In medical genetic planning of pregnancy, two factors are of particular importance - the presence of autosomal aneuploidy in a child and the age of the mother over 35 years.

Karyotypic risk factors in married couples include: aneuploidy (often in mosaic form), Robertsonian translocations (fusion of two telocentric chromosomes in the area of ​​division), ring chromosomes, inversions. The degree of increased risk depends on the type of chromosomal disorder.

Down syndrome (trisomy of 21 pairs of chromosomes)

Cause: Non-disjunction of 21 pairs of autosomes, translocation of 21 autosomes to the autosome of group D or G. 94% have a karyotype of 47 chromosomes. The frequency of manifestation of the syndrome increases with the age of the mother.

Clinic: Signs that allow diagnosing the disease, in typical cases, are detected at the earliest stages of a child's life. The small stature of the child, a small round head with a sloping nape, a peculiar face - poor facial expressions, an oblique cut of the eyes with a crease at the inner corner, a nose with a wide flat bridge of the nose, small deformed auricles. The mouth is usually half open, the tongue is thick, clumsy, the lower jaw sometimes protrudes forward. Dry eczema is often noted on the cheeks. Shortening of the limbs is found, especially in the distal sections. The hand is flat, the fingers are wide, short. They lag behind in physical development, but not sharply, but neuropsychic development is slow (speech is poorly developed). With age, a number of new features of the disease are revealed. The voice coarsens, myopia, strabismus, conjunctivitis, abnormal growth of teeth, caries are noted. The immune system is poorly developed, infectious diseases are extremely difficult and 15 times more common than in other children. There is acute leukemia.

Pathogenesis: Pathologies of internal organs, cardiovascular defects.

Diagnostics: Clinical examination confirmed by cytogenetic analysis of the karyotype.

Treatment: Complex therapy, including the correct organization of the regimen, rationally constructed medical and pedagogical work, physiotherapy exercises, massage, drug treatment.

Turner-Shershevsky Syndrome (CS)

Cause: Nondisjunction of sex chromosomes, absence of one X chromosome, karyotype - 45 chromosomes.

Clinic : Short stature, disproportionate body structure, full short neck with pterygoid skin folds, wide chest, X-shaped curvature of the knees. The ears are demorphed, set low. Abnormal growth of teeth is noted. Sexual infantilism. Decreased mental development.

Pathogenesis: During puberty, underdevelopment of the genital organs and secondary sexual characteristics, damage to the vascular system, anomalies of the urinary system, decreased visual acuity, hearing.

Diagnostics : In newborns, it is difficult to establish. With age, the diagnosis is based on the clinical picture and the determination of the pathology of the karyotype and sex chromatin.

Treatment: Symptomatic, aimed at increasing growth. Anabolic hormones are used to increase growth. From the age of 13-15, treatment with estrogenic drugs begins. Complete recovery is not observed, but therapeutic measures can improve the condition

Klinefelter syndrome (XXY; XYY; XYYYY; XXXY)

Cause: Non-disjunction of sex chromosomes, as a result of which the number of X or Y chromosomes in the cell increases, the karyotype is 47 (XXY), 48 or more chromosomes.

Clinic: High growth, lack of bald patches on the forehead, poor beard growth, gynecomastia, osteochondrosis, infertility, underdeveloped muscles, anomalies of the teeth and skeletal system. Patients may demonstrate reduced intelligence. With an increase in X chromosomes, mental retardation increases to complete idiocy, with an increase in Y chromosomes - aggressiveness. Patients with a deeper degree of intellectual defect may show a number of psychopathological signs: they are suspicious, prone to alcoholism, capable of committing various offenses.

Pathogenesis: In the pubertal period, underdevelopment of primary sexual characteristics is found.

Diagnostics: Based on clinical data, as well as on the determination of the pathological karyotype by the cytogenetic method, which is confirmed by the study of sex chromatin in cells.

Treatment: Therapy with male sex hormones to increase potency. Psychotherapy.

Wolf-Hirshhorn syndrome

Cause: In 80% of newborns suffering from it, the cytological basis of this syndrome is division short shoulder 4th chromosome. The size of the deletion ranges from small terminal to occupying about half of the distal part of the short arm. It is noted that most of the deletion occurs again, about 13% occurs as a result of translocations in the parents. Less commonly, in the genome of patients, in addition to translocation, there are also ring chromosomes. Along with divisions of chromosomes, pathology in newborns can be caused by inversions, duplications, isochromosomes.

Clinic: Newborns have a small weight with a normal duration of pregnancy. Microcephaly, coracoid nose, epicanthus, anti-Mongoloid incision of the eyes (omission of the outer corners of the eye fissures), abnormal auricles, cleft lip and palate, small mouth, deformity of the feet, etc. are also noted. Children with Wolff-Hirschhorn syndrome are not viable, usually die in under the age of one year.

Pathogenesis: The disease is characterized by numerous congenital malformations, mental retardation and psychomotor development.

Diagnostics: According to the clinical picture.

Treatment: Does not exist.

trisomy syndrome (XXX)

Cause: Nondisjunction of sex chromosomes as a result of disruption of the mitotic spindle during meiosis, karyotype - 47 chromosomes.

Clinic: Vesical non-disjunction of the placenta; the newborn has a small, wide posterior fontanel, underdeveloped occipital and parietal bones of the skull. Lag in development for 6-7 months. Deformed auricles are located low. Syndactyly of the fingers, cleft lip and palate, hydrocephalus. Many women are normally developed, intelligence is below average. The frequency of development of schizophrenia-like psychoses increases second.

Pathogenesis: Malformations of internal organs.

Diagnostics: According to the clinical picture and cytogenetic definition of the pathology of the karyotype and sex chromatin.

Treatment: Symptomatic.

Edwards syndrome (trisomy of chromosome 18)

Cause: Nondisjunction of autosomes at the stage of gametes (sometimes zygotes). Extra chromosome in the 18th pair. Karyotype 47, E18+. The dependence of the frequency of birth of sick children on the age of the parents is expressed.

Clinic: Prenatal underdevelopment, weak fetal activity, structural disorders of the face (short palpebral fissures, small upper jaw) and the musculoskeletal system are almost constant. The auricles are deformed and in the vast majority of cases are located low. The sternum is short, the ossification nuclei are located incorrectly and in smaller numbers. Spinal hernias and cleft lips.

Pathogenesis: The most permanent defects of the heart and large vessels. Developmental disorders of the brain, mainly hypoplasia of the cerebellum and corpus callosum. Of the defects of the eyes, microanaphtholmia is most often detected. Congenital absence of the thyroid gland and adrenal glands.

Diagnostics: Clinical examination, dermatoglyphics,

cytogenetic examination.

Treatment: Absent, 90% of children die in the first year of life. Surviving children die from infectious diseases, more often from pneumonia.

Patau syndrome (trisomy but 13 autosomes)

Cause: Nondisjunction of autosomes of the 13th pair in gametogenesis in one of the parents. Karyotype - 47, D13+.

Clinic: Anomalies of the skull and face, the circumference of the skull is usually reduced, in some cases there is a pronounced trigonocephaly. Moderate microcephaly is combined with a relatively low and sloping forehead, narrow palpebral fissures, a sunken forearm with a wide base of the nose, and low-lying and deformed auricles. The distance between the palpebral fissures is often reduced. The scalp has oval or round shaped scalp defects. Often - cleft lip and cleft palate. Anomalies of the musculoskeletal system, polydactyly.

Pathogenesis: Mortality during the first year of life (90%). The main cause of death in children are severe, incompatible with life malformations: defects in the cardiovascular and genitourinary systems, anomalies of the large intestine, umbilical hernia, disorders of the structure of the eyeballs, constant microanophthalmia, retinal dysplasia, cataracts. Congenital heart defects occur in 80% of children.

Diagnostics: Based on clinical, cytogenetic studies.

Syndrome "cat's cry"

Cause: Deletion of the short arm of chromosome 5. Karyotype 46, 5p-.

Clinic: Pathological structure of the vocal cords - narrowing, softness of the cartilage, swelling and unusual folding of the mucosa, meowing of a cat. Underdevelopment of speech. Microcephaly. Moon-shaped face, Mongoloid eyes, strabismus, cataract, optic nerve atrophy, flat nasal bridge, high palate, deformed auricles. Clubfoot. Delayed mental and physical development. Life expectancy is significantly reduced, with only about 14% of patients surviving the age of 10 years.

Pathogenesis: Heart disease.

Diagnostics: Clinical examination with the identification of the most constant sign of the syndrome - "cat's cry", dermatoglyphics and cytogenetic detection of karyotype pathology.

Treatment: Is absent.

Orbeli syndrome

Cause : Divisions of the long arm of the autosome 13.

Clinic: The forehead passes into the nose without forming a nasal notch. Large distance between eyes. Wide back of the nose, high palate, low-lying dysplastic auricles, malformations of the eyes (strabismus, cataracts). Defects of the musculoskeletal system - nonspecific anomalies (clubfoot, dislocation hip joints). growth retardation and psychomotor development; characterized by profound oligophrenia. Patients with a detailed clinical picture of the syndrome die in the first year of life.

Pathogenesis: Abnormal development of almost all organs and systems; microcephaly; congenital heart defects and anomalies of the rectum.

Diagnostics:

Treatment: Is absent.

Maurice syndrome

Cause: A gene mutation that disrupts the formation of a normal receptor protein makes target tissues resistant to the hormone that directs their development in the male pattern. Without using this opportunity at a certain stage of ontogenesis, the organism develops according to the female type.

Clinic: An individual with the XY karyotype appears, but outwardly it is more similar to a woman. Such subjects are not able to have offspring, since their sex glands (testes) are underdeveloped, and their excretory ducts are often formed according to the female type (underdeveloped uterus, vagina). Secondary sexual characteristics are also characteristic of the female.

Pathogenesis: Underdeveloped genitals.

Diagnostics: Cytogenetic, clinical examination.

Treatment: hormone therapy.