De novo interstitial deletion of chromosome 2 (p23p24).
Pediatr Neonatol
; 52(1): 46-50, 2011 Feb.
Article
em En
| MEDLINE
| ID: mdl-21385658
ABSTRACT
Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.1 and three cases of 2p23.3-2p25.1 described in the literature. We report here the first instance of an interstitial deletion of 2p23p24, confirmed by comparative genome hybridization. We present a clinical and cytogenetic report of a patient with psychomotor retardation, hearing impairment, and limb abnormalities. The obvious osseous fusion with bone marrow and cortex continuation between proximal parts of radius and ulna-congenital radioulnar synostosis-were first visualized by multidetector-row computed tomography scan.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 2
/
Deleção Cromossômica
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Neonatol
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Taiwan