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Am J Med Genet A. 2013 Sep;161A(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25.

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

Author information

1
Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain.

Abstract

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.

KEYWORDS:

18p trisomy; cytogenetics; intellectual disability; recurring chromosome abnormality; sSMC; small marker chromosome

PMID:
23894094
DOI:
10.1002/ajmg.a.36102
[Indexed for MEDLINE]

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