Korean J Nephrol.
1997 Jun;16(2):361-364.
A Case of Chromosome Anomaly with 46,XY,del(15)(p12), Phenotypically Presenting Smith-Lemli-Opitz Syndrome
- Affiliations
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- 1Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea.
Abstract
- Smith-Lemli-Opitz syndrome is characterized by unusual facies, microcephaly, mental and growth retardation, skeletal and genitourinary malformations. We present a 10-year old boy who visited us with chief complaints of urinary incontinence and azotemia. He was manifested facial abnormalities and other features of Smith-Lemli-Opitz syndrome including vesicoureteral reflux, chronic pyelonephritis, hypospadia and cryptorchidism. Chromosomal study showed 15 chromosome short arm deletion, karyotypically he was depicted 46, XY, del(15)(p12).
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