Liveborn trisomy 22: report of one case.
A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.
Lean
S F
SF
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
Lin
S P
SP
Shen
E Y
EY
Ho
M Y
MY
Yang
S Y
SY
D000328:Adult; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D014314:Trisomy