Further contribution to the description of phenotypes associated with partial 4q duplication.
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.
Zollino
M
M
Istituto di Genetica Medica, Facoltá di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
Zampino
G
G
Torrioli
G
G
Pomponi
M G
MG
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D014314:Trisomy