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., Zampino, G., Torrioli, G., Pomponi, M. G., Neri, G., Further contribution to the description of phenotypes associated with partial 4q duplication, <<AMERICAN JOURNAL OF MEDICAL GENETICS>>, 1995; 57 (1): 69-73. [doi:10.1002/ajmg.1320570116] [http://hdl.handle.net/10807/37029]
Further contribution to the description of phenotypes associated with partial 4q duplication
Zollino, Marcella;Zampino, Giuseppe;Neri, Giovanni
1995
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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