Molecular cytogenetic studies of duplication 9q32→q34.3 inserted into 9q13 |
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Authors: | Jia-Woei Hou Tso-Ren Wang |
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Institution: | Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan |
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Abstract: | 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. |
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Keywords: | chromosome 9 duplication 9q32→q34 3 insertion |
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