Characterization of interstitial Xp duplications in two families by tiling path array CGH.
Duplications of the short arm of the X chromosome in male patients are rare. We report on the clinical features of mentally retarded patients in two families with different interstitial duplications of Xp and their characterization by tiling path array comparative genomic hybridization (array CGH). In Family A, we detected a duplication of 9.3 Mb in Xp11p21 in a male with severe mental retardation [karyotype 46,XY,dup(X)(p11.3p21.1)] and his healthy mother. The clinical features of this patient--severe mental retardation, obesity, macrocephaly--are in accordance with those of a previously reported patient with a similar duplication. In Family B, a duplication of 8.5 Mb was diagnosed in Xp22 in three male patients with mental retardation [karyotype 46,XY,dup(X)(p22.11p22.2)] and two healthy females. Characterization of the duplications by array CGH enabled the identification of the genes within these intervals. These comprise known mental retardation genes such as MAOA, NDP, TM4SF2, NDP, RSK2, and CDKL5. Duplication of MAOA will be discussed as a possible cause of obesity.
Tzschach
Andreas
A
Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Chen
Wei
W
Erdogan
Fikret
F
Hoeller
Adelheid
A
Ropers
Hans-Hilger
HH
Castellan
Claudio
C
Ullmann
Reinhard
R
Schinzel
Albert
A
D000328:Adult; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X; D005190:Family; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis; D008875:Middle Aged; D010375:Pedigree