Inverted duplication of 1q32.1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy.

摘要

Partial duplication of the distal long arm of chromosome 1 is uncommon but has been reported before [Steffensen et al., 1977; Flatz and Fonatsch, 1979; Lungarotti et al., 1980; Clark et al., 1994; Duba et al., 1997; Sillen et al., 1998; Ramesh et al., 2000; Nowaczyk et al., 2003]. However, pure inverted duplication of distal 1q has, to our knowledge, only been reported twice [De Brasi et al., 2001; Polityko et al., 2005]. Duplication of this region is associated with short stature, multiple minor anomalies and mental retardation [Schinzel, 2001]. Here we report on a patient with an inverted duplication spanning 41.6 Mb of the distal long arm of chromosome 1 from 1q32.1 to 1q44 including the subtelomere. Oligonu-cleotide array comparative genomic hybridization (oaCGH), Fluorescence in situ hybridization (FISH) and Multiplex ligation-dependent probe amplification (MLPA) were used to determine the nature and gene content of this distal 1q imbalance. The phenotype of the patient was reviewed in relation to that associated with previous patients pure with distal 1q trisomy and smaller imbalances within this interval.