A Case of Chromosome Anomaly with 46,XY,del(15)(p12), Phenotypically Presenting Smith-Lemli-Opitz Syndrome.
- Author:
Chang Han LEE
1
;
Jin Seung LEE
;
Pyung Kil KIM
Author Information
1. Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Smith-Lemli-Opitz syndromex
- MeSH:
Arm;
Azotemia;
Child;
Cryptorchidism;
Facies;
Female;
Humans;
Hypospadias;
Male;
Microcephaly;
Pyelonephritis;
Smith-Lemli-Opitz Syndrome*;
Urinary Incontinence;
Vesico-Ureteral Reflux
- From:Korean Journal of Nephrology
1997;16(2):361-364
- CountryRepublic of Korea
- Language:Korean
-
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).
