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36 Cards in this Set
- Front
- Back
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The 2nd most common cause of genetic intellecual disability. |
Fragile x syndrome |
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X-linked defect with manifestations of macroorchidism, long face with a large jaw, large everted ears, autism, valve prolapse. |
Fragile x syndrome |
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What gene is affected in Fragile X syndrome? |
X-linked affect the methylation and expression of FMR1 gene
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What does the gene FMR1 code for and what is its function? |
FMR1 is a that codes for FMRP which is a cytoplasmic protein found in brain , testes, which is involved in mRNA translation of axons and dendrites. |
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Main causes of metal retardation |
Alcohol syndrome Down syndrome Fragile X syndrome
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Trinucleotide repeat disorder(CGG) |
Fragile X syndrome |
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Intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, duodenal atresia, gao between 1st 2 toes. |
Down syndrome |
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What is the most common cogenital heart disease in Down syndrome? |
Ostium primum-type atrial septal defect (ASD) |
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Down syndrome is associated with? |
increases rik of ALL, AML, and Alzheimer disease(.35 years old) |
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95% of cases due to meiotic nondisjunction of homologous chromosomes |
Down syndrome |
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Non-reciprocal chromosoma translocation that involves chromosome pairs |
Robertsonian translocation
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What are the most common maternal ages associated with down syndrome? |
1:1500 in women <20 and 1:25 in women >45 years old |
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In down syndrome first-trimester ultrasound commonly shows: |
increase in nuchal translucency and hypoplastic nasal bone |
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Second-trimester quad screen in down syndrome shows: |
decrease in alfa-fetoprotein and estrioal, increase in B-hCG and inhibin-A |
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Severe intellectual disability, rocker bottom feet, micrognathia, low-set ears, clenched hands. |
Edwards syndrome (trisomy 18) |
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Most common trisomy resulting in live birth after Down syndrome |
Edwards syndrome |
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In Edwards syndrome quad screen shows |
decreases in alfa-fetoprotein, B-hCG, estriol, inhibin A |
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Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, celft lip/palate, holoprosencephaly, polydactyly |
Patau syndrome |
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What gene is associated with Patau syndrome? |
sony-c genes |
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First-trimester pregnancy screen in patau syndrome shows: |
Decreases in free B-hCG and PAPP-A, and a increases in nuchal translucency |
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Congenital microdeletion of short arm of chromosome 5 |
Cri-du-chat syndrome |
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Microcephaly, moderate to severe intellectual disability, high-piched crying, ipicanthal folds, cardiac abnormalities. |
Cri-du-chat syndrome |
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Congenital microdeletion of long arm of chromosome 7 |
Williams syndrome |
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Elfin facies, intellectual disability, hypercalcemia, well-developed verbal skills. |
Williams syndrome |
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Due to aberrant development or 3rd and 4th brachial pounches |
22q11 deletion syndrome |
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CATCH-22
Cleft palate, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia |
CATCH-22
22q11 deletion syndrome |
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Thymic, parathyroid, and cardiac defect ( 90% due to 22q11) |
DiGeorge syndrome |
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Palate, facial, and cardiac defects (due to 22q11) |
velocardiofacial syndrome |
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Extra sex chromosome 47 XXY |
Klinefelter syndrome |
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Testicular atrophy, eunuchoid body shape, tall, logn extremeties, gynecomastia, female hair distribution. |
Klinefelter syndrome |
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Presence of inactivated X chromosome (Barr body) |
Klinefelter syndrome |
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Common cause of hypogonadism seen in infertility work-up. |
Klinefelter syndrome |
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Dysgenesis of seminiferous tubules produced |
Decrease in inhibin that produces an increase in FSH |
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Short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, preductal coarctation, lymphatic defects, horseshoe kidney. |
Turner syndrome |
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Most common cause or 1rd amenorrhea. no barr body, infertility, Menopause before menarche |
Turner syndrome |
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Phenothypically normal, very tall, severe acne, antisocial behavior. |
Double Y males |
