Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
Am J Med Genet A
; 116A(1): 66-70, 2003 Jan 01.
Article
en En
| MEDLINE
| ID: mdl-12476454
We describe the case of a 6-month-old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12, del(12)(p12.1p12.3). Molecular cytogenetic analysis with bacterial artificial chromosomes (BAC) clones was used to refine the extent of the deletion. The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 12
/
Discapacidades del Desarrollo
/
Deleción Cromosómica
/
Anomalías Craneofaciales
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2003
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Estados Unidos