Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration | Zendy

Plaja Alberto | Zendy; Lloveras Elisabet | Zendy; MartinezBouzas Cristina | Zendy; Barreña Beatriz | Zendy; Campo Miguel Del | Zendy; Fernández Asunción | Zendy; Herrero Marta | Zendy; Barranco Laura | Zendy; Palau Nuria | Zendy; LópezAríztegui M. Asunción | Zendy; Català Vicenç | Zendy; Tejada MariaIsabel | Zendy

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Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Author(s) -

Plaja Alberto,

Lloveras Elisabet,

MartinezBouzas Cristina,

Barreña Beatriz,

Campo Miguel Del,

Fernández Asunción,

Herrero Marta,

Barranco Laura,

Palau Nuria,

LópezAríztegui M. Asunción,

Català Vicenç,

Tejada MariaIsabel

Publication year - 2013

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.36102

Subject(s) - marker chromosome , supernumerary , small supernumerary marker chromosome , centromere , trisomy , chromosome , biology , genetics , karyotype , anatomy , gene

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. © 2013 Wiley Periodicals, Inc.

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