Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Am J Med Genet A
; 161A(9): 2363-8, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23894094
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Trissomia
/
Cromossomos Humanos Par 13
/
Cromossomos Humanos Par 21
/
Centrômero
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article