Читать книгу Primary Care for COMLEX Level 1 - Dr. Jahan Eftekar - Страница 31

•Down’s Syndrome ⇔ Trisomy 21, non-disjunction, mental retardation, Simian crease

•Edwards’s ⇔ Trisomy 18, PDA, Clenched fist

•Patau’s ⇔ Trisomy 13, syndactyly, mental retardation

•Cri du chat ⇔ Chromosome 5, mental retardation, microencephaly

•Klinefelter’s ⇔ XXY, male hypogonadism, low IQ, Barr bodies (buccal smear)

•XYY Syndrome ⇔ violent behavior, severe acne

•XXX Syndrome ⇔ mental retardation

•Turner’s syndrome ⇔ XO, female hypogonadism, no Barr bodies

•Fragile X ⇔ Frequency of mental retardation is second after Down’s, long arm of chromosome X defect