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Using polymerase chain reaction for rapid sex‐determination of a case of sirenomielia
Author(s) -
Jin Yuko,
Endo Akihiko,
Shimada Masami,
Minato Michiyoshi,
Takada Masaaki,
Takahashi Shigeru,
Harada Kensuke,
Hayakawa Satoshi,
Sato Kazuo
Publication year - 1998
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1998.tb01929.x
Subject(s) - medicine , imperforate anus , single umbilical artery , testis determining factor , renal agenesis , pelvis , autopsy , gestation , deformity , obstetrics , anatomy , surgery , pregnancy , pathology , kidney , gene , y chromosome , biochemistry , chemistry , biology , genetics
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 determing 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.