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| Smith - Lemli - Opitz Syndrome 표현성을 보이는 염색체 46, X,Y, del ( 15 )( p 12 ) |
| 이창한 , 이진성 , 김병길 |
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| Abstract |
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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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