Another Rare Case of a Child with de novo Terminal 9p Deletion and Co-Existing Interstitial 9p Duplication: Clinical Findings and Molecular Cytogenetic Study by Array-CGH

被引：8

作者：

Kowalczyk, M. ^{[1
]}

Tomaszewska, A. ^{[2
]}

Podbiol-Palenta, A. ^{[2
]}

Constantinou, M. ^{[3
]}

Wawrzkiewicz-Witkowska, A. ^{[2
]}

Kowalski, J. ^{[1
]}

Kaluzewski, B. ^{[3
]}

Zajaczek, S. ^{[2
,4
]}

Srebniak, M. I. ^{[5
]}

机构：

[1] Med Univ Silesia, Dept Med Genet, PL-41200 Sosnowiec, Poland

[2] Prenatal Diagnost & Genet Clin, Zabrze, Poland

[3] Med Univ Lodz, Dept Genet, Lodz, Poland

[4] Pomeranian Med Univ, Dept Pathol, Cytogenet Unit, Szczecin, Poland

[5] Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands

来源：

CYTOGENETIC AND GENOME RESEARCH | 2013年 / 139卷 / 01期

关键词：

Array-CGH; Dandy-Walker malformation; Deletion; 9p; Duplication; FISH; COMPARATIVE GENOMIC HYBRIDIZATION; DANDY-WALKER MALFORMATION; PARTIAL TRISOMY 9P; INV DUP DEL(9P); CRITICAL REGION; MENTAL-RETARDATION; SEX REVERSAL; SHORT-ARM; PHENOTYPE; GIRL;

D O I：

10.1159/000342165

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Trisomy 9p is the fourth most common chromosome abnormality found in liveborns. We report on a rare case of partial trisomy 9p complicated by partial monosomy 9p. Clinical manifestation included craniofacial abnormalities typical for trisomy 9p syndrome, developmental delay, mental retardation and brain anomaly in the form of Dandy-Walker malformation. The cytogenetic abnormality was investigated with FISH and array-CGH to characterize the breakpoints of the complex rearrangement. The patient's karyotype was 46,XX,der(9)del(9)(p24)dup(9)(p21p24)dn.arr 9p24.3p24.2 (1-2,414,485)x1,9p24.2p21.3(2,414,485-24,101,280)x3. The cytogenetic rearrangement led to a 2.4-Mb deletion of 9p24.2pter and a 21.6-Mb duplication of 9p24.2p21.3. The clinical and cytogenetic findings in our and other similar patients are compared. Copyright (C) 2012 S. Karger AG, Basel

引用

页码：9 / 16

页数：8

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