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.
Lingua originale | Inglese |
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pagine (da-a) | 69-73 |
Numero di pagine | 5 |
Rivista | American Journal of Medical Genetics |
Volume | 57 |
DOI | |
Stato di pubblicazione | Pubblicato - 1995 |
Keywords
- Abnormalities, Multiple
- Adolescent
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Dermatoglyphics
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Phenotype
- Trisomy