Further contribution to the description of phenotypes associated with partial 4q duplication.
Am J Med Genet
; 57(1): 69-73, 1995 May 22.
Article
en En
| MEDLINE
| ID: mdl-7645603
ABSTRACT
We report on a 15-year-old girl with a previously undescribed de novo duplication of segment 4q13.1-->q22.2. The origin of the extrachromosomal material on 4q was unequivocally established by fluorescent in situ hybridization with a chromosome 4 painting probe. Clinical manifestations included moderate mental retardation, destructive behavior, and minor physical anomalies. An analysis of the literature on partial 4q trisomy led us to identify a region comprising bands 4q22-q23, which may be involved in the development of the acrorenal field.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trisomía
/
Anomalías Múltiples
/
Cromosomas Humanos Par 4
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1995
Tipo del documento:
Article
País de afiliación:
Italia