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

Autor: Plaja A; Citogenética, General Lab-Laboratoris d'Anàlisis, Barcelona, Spain., Lloveras E, Martinez-Bouzas C, Barreña B, Del Campo M, Fernández A, Herrero M, Barranco L, Palau N, López-Aríztegui MA, Català V, Tejada MI
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Sep; Vol. 161A (9), pp. 2363-8. Date of Electronic Publication: 2013 Jul 25.
DOI: 10.1002/ajmg.a.36102
Abstrakt: 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.
(Copyright © 2013 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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