Severe psychomotor retardation in a boy with a small supernumerary marker chromosome 19p

被引：5

作者：

Vranekovic, J. ^{[1
]}

Brajenovic-Milic, B. ^{[1
]}

Modrusan-Mozetic, Z. ^{[2
]}

Babic, I. ^{[1
]}

Kapovic, M. ^{[1
]}

机构：

[1] Univ Rijeka, Sch Med, Dept Biol & Med Genet, Rijeka 51000, Croatia

[2] Univ Rijeka, Childrens Hosp Kantrida, Dept Pediat, Rijeka 51000, Croatia

来源：

CYTOGENETIC AND GENOME RESEARCH | 2008年 / 121卷 / 3-4期

关键词：

D O I：

10.1159/000138902

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We describe the clinical case of a nine-year-old boy with psychomotor retardation and a small supernumerary marker chromosome (sSMC) present in mosaic form. Fluorescence in situ hybridization (FISH) using centromere cross-hybridizing probes D1/5/19Z (pZ5.1), the whole chromosome paint probe 19, pool YACs19p (839B1, 872G3, 728C8), and pool YACs19q (767C4, 761C1, 786G6) demonstrated that the sSMC was derived from chromosome 19p. Based on GTG-banding and FISH analyses, the patient's karyotype was interpreted as: 47,XY,+mar.ish der(19) (:p13.3 -> p11:)(839B1+, 872G3+, 728C8+, D1/5/19Z+) de novo [52]/46,XY[48]. To our knowledge, only two other similar cases have been reported. This case helps to better delineate karyotype-phenotype correlations between sSMC 19p and associated clinical phenomena. Copyright (c) 2008 S. Karger AG, Basel.

引用

页码：298 / 301

页数：4

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