Partial Trisomy 2p and Partial Monosomy 2q Arising from a Paternal Intrachromosomal 2q-into-2p Between-Arm Insertion and Paracentric Inversion: Molecular Cytogenetic Characterization of a Four-Break Rearrangement

被引：2

作者：

Manolakos, E. ^{[1
]}

Vetro, A. ^{[8
]}

Papadopoulou, E. ^{[6
]}

Kefalas, K. ^{[2
]}

Lagou, M. ^{[2
]}

Thomaidis, L. ^{[3
]}

Peitsidis, P. ^{[4
]}

Sifakis, S. ^{[7
]}

Divane, A. ^{[5
]}

Ziegler, M. ^{[9
]}

Liehr, T. ^{[9
]}

Zuffardi, O. ^{[8
]}

Papoulidis, I. ^{[1
]}

机构：

[1] Eurogenet SA, Genet Lab, GR-11527 Athens, Greece

[2] Univ Athens, Aglaia Kyriakou Childrens Hosp, Bioiatriki SA, Genet Lab, Athens, Greece

[3] Univ Athens, Aglaia Kyriakou Childrens Hosp, Dept Paediat, Athens, Greece

[4] Helena Venizelou Hosp, Dept Obstet & Gynecol, Athens, Greece

[5] Genet Lab, Life Code, Athens, Greece

[6] Univ Hosp Herakl, Dept Pediat, Iraklion, Greece

[7] Univ Hosp Herakl, Dept Gynecol, Iraklion, Greece

[8] Univ Pavia, Dept Human Pathol & Genet, I-27100 Pavia, Italy

[9] Jena Univ Hosp, Inst Human Genet & Anthropol, Jena, Germany

来源：

CYTOGENETIC AND GENOME RESEARCH | 2013年 / 140卷 / 01期

关键词：

Array-CGH; Deletion; 2q14.1q21.2; Duplication; 2p22.3p22.2; Mental retardation; Paracentric inversion; Pericentric insertion; INTERSTITIAL DELETION; MENTAL-RETARDATION; CHROMOSOME REARRANGEMENT; INVERTED DUPLICATIONS; CLASSICAL PHENOTYPE; TRANSLOCATION; FAMILY; PATIENT; MICRODISSECTION; ABNORMALITY;

D O I：

10.1159/000350868

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We report on a 26-month-old boy with an interstitial duplication of 2p22.3p22.2 and an interstitial deletion of 2q14.1q21.2. The abnormality was derived from his father having a balanced paracentric inversion and pericentric insertion. The deletion in the child was identified by cytogenetic analysis and characterized in more detail by molecular cytogenetics and array comparative genomic hybridization. The latter revealed a 20-Mb deletion in the long arm and a 5.6-Mb duplication in the short arm of chromosome 2. Fluorescence in situ hybridization in paternal chromosomes characterized an intrachromosomal insertion of 2q14.1q21.2 into 2p23; additionally a paracentric inversion of 2p13p23 was observed. The boy with the unbalanced karyotype suffered from severe psychomotor retardation, thrombophilia due to protein C deficiency, and hypertrophic cardiomyopathy and also had phenotypic abnormalities. Most of these features have previously been described in individuals with interstitial deletion of 2q14.1. Copyright (C) 2013 S. Karger AG, Basel

引用

页码：12 / 20

页数：9

共 52 条

[11] FAMILIAL MENTAL-RETARDATION IN A FAMILY WITH AN INHERITED CHROMOSOME REARRANGEMENT [J].