Trisomy 18p Caused by a Supernumerary Marker With a Chromosome 13/21 Centromere: A Possible Recurrent Chromosome Aberration

被引：7

作者：

Plaja, Alberto ^{[1
,2
]}

Lloveras, Elisabet ^{[1
]}

Martinez-Bouzas, Cristina ^{[3
]}

Barrena, Beatriz ^{[4
]}

Del Campo, Miguel ^{[2
]}

Fernandez, Asuncion ^{[2
]}

Herrero, Marta ^{[1
]}

Barranco, Laura ^{[1
]}

Palau, Nuria ^{[1
]}

Asuncion Lopez-Ariztegui, M. ^{[3
]}

Catala, Vicenc ^{[5
]}

Tejada, Maria-Isabel ^{[3
]}

机构：

[1] Citogenetica, Gen Lab, Lab Anal, Barcelona, Spain

[2] Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Inst Recerca VHIR, E-08193 Barcelona, Spain

[3] Hosp Univ Cruces, Lab Genet Mol, Serv Genet, BioCruces Hlth Res Inst, Baracaldo 48903, Bizkaia, Spain

[4] Hosp Basurto, Unidad Genet, Bilbao, Spain

[5] Prenatal Genet, Barcelona, Spain

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2013年 / 161卷 / 09期

关键词：

cytogenetics; small marker chromosome; sSMC; recurring chromosome abnormality; intellectual disability; 18p trisomy; GENOTYPE-PHENOTYPE CORRELATION; MENTAL-RETARDATION; SHORT ARM; DUPLICATION; FREQUENCY; ORIGIN; PURE; SSMC; AGE;

D O I：

10.1002/ajmg.a.36102

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a clinical and molecular cytogenetic characterization of two new patients with a complex supernumerary marker consisting of the entire short arm of chromosome 18 with a chromosome 13/21 centromere. One patient is a girl with a nonsyndromic intellectual disability and the second is a prenatally diagnosed fetus. To our knowledge, these are the fourth and fifth such cases to be described in the literature, suggesting the existence of a possible recurring constitutional structural chromosome abnormality. (c) 2013 Wiley Periodicals, Inc.

引用

页码：2363 / 2368

页数：6

共 40 条

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