Using polymerase chain reaction for rapid sex-determination of a case of sirenomelia.
A rare case of sirenomelia with its autopsy findings is reported. The 1188 g infant was delivered by cesarean section at the 36th week of gestation, and died at 4 h of life. Physical and pathologic findings included sirenomelia (a single lower extremity mass), lung hypoplasia, bilateral renal agenesis, blind-ending colon, severe deformity of the bony pelvis, an imperforate anus, absence of the bladder, and a single umbilical artery. Because of the difficulty in determining the sex of the infant, PCR directed against the SRY gene was performed. The PCR-based sex determination is a rapid technique in patients with ambiguous genitalia.
Jin
Y
Y
Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
Endo
A
A
Shimada
M
M
Minato
M
M
Takada
M
M
Takahashi
S
S
Harada
K
K
Hayakawa
S
S
Sato
K
K
D001344:Autopsy / Q000379:methods; D004480:Ectromelia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D016133:Polymerase Chain Reaction / Q000379:methods*; D012732:Sex Determination Analysis / Q000379:methods*; D014998:Y Chromosome / Q000235:genetics*