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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.