chromosome, chromosome abnormalities and birth defects Flashcards
Down syndrome: explain how three different chromosome aberrations lead to Down syndrome and the clinical features of that condition
1
Q
Down syndrome: cause of autosomal aneuploidy
A
trisomy 21, mosaicism or translocation; strong association with maternal age, non-disjunction in meiosis I or II; affects transcription factors, cell surface receptors and subunits of multimeric proteins
2
Q
Down syndrome: clincial features
A
newborn: hypotonia, excess nuchal skin; craniofacial: brushfield spot, small ears, sloping palpebral fissures; limbs: single, palmar crease, sandal gap; cardiac: septal defects; other: short stature
