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Am J Med Genet. 1995 May 22;57(1):69-73.

Further contribution to the description of phenotypes associated with partial 4q duplication.

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1
Istituto di Genetica Medica, Facoltá di Medicina A. Gemelli, Università Cattolica, Rome, Italy.

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.

PMID:
7645603
DOI:
10.1002/ajmg.1320570116
[Indexed for MEDLINE]
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