Using polymerase chain reaction for rapid sex-determination of a case of sirenomielia
| Autor: | Kazuo Sato, Shigeru Takahashi, Satoshi Hayakawa, Masaaki Takada, Michiyoshi Minato, Akihiko Endo, Kensuke Harada, Yuko Jin, Masami Shimada |
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| Rok vydání: | 1998 |
| Předmět: |
Sex Determination Analysis
medicine.medical_specialty Ectromelia Autopsy Polymerase Chain Reaction Y Chromosome Deformity Humans Medicine Gynecology business.industry Single umbilical artery Infant Newborn medicine.disease Surgery Bilateral Renal Agenesis Testis determining factor Sirenomelia Karyotyping Pediatrics Perinatology and Child Health Female medicine.symptom business Imperforate anus |
| Zdroj: | Pediatrics International. 40:282-285 |
| ISSN: | 1442-200X 1328-8067 |
| DOI: | 10.1111/j.1442-200x.1998.tb01929.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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