Molecular cytogenetic studies of duplication 9q32-->q34.3 inserted into 9q13.
Fluorescence in situ hybridization (FISH) studies using whole chromosome 9 painting probe, classical satellite (9q12-specific) probe and abl cosmid probe (locus: 9q34) were performed on a female infant who was born with multiple congenital anomalies and the karyotype 46,XX, 9q+. The results of FISH confirm the euchromatic nature of the extra material on the long arm of chromosome 9, and provide evidence that it is of chromosome 9 origin. The structural rearrangement has probably resulted from an insertion of a duplicated segment 9q32-->q34.3 into band q13, as shown by the abl cosmid probe. The clinical features in this patient are similar to the previously reported cases of partial trisomy 9q3.
Hou
J W
JW
Department of Pediatrics, National Taiwan University Hospital, Taipei.
Wang
T R
TR
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D005810:Multigene Family
D004251:DNA Transposable Elements