Apparently nonmosaic trisomy 22: clinical report and review.
We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.
Kuwait Medical Genetics Centre, Maternity Hospital, Safat.
T S
TS
Sundareshan
K K
KK
Naguib
S A
SA
al-Awadi
M A
MA
Redha
M S
MS
Hamoud
D000015:Abnormalities, Multiple / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011110:Polymorphism, Genetic; D014314:Trisomy