Complex structural rearrangement of chromosomes 13, 19 and 20 detected cytogenetically and by fluorescence in situ hybridization (FISH)
Complex chromosomal rearrangements (CCRs) are rare. To date, 72 CCRs have been reported. We report here a case of CCR in a 10 year old boy and his mother involving chromosomes 13, 19 and 20, detected by G-,C- and Ag-NOR banding and by fluorescence in situ hybridization (FISH) technique. Father and other sibs were found to be chromosomally normal. The patient presented with clinical features having obesity, micropenis, slow learning and IQ=70. Mother was clinically normal. Karyotype of the patient and mother showed apparently balanced chromosomal rearrangements involving chromosomes 13, 19 and 20. The karyotypes were interpreted as: 45,XY,-19,der(13),der(20),t(13;19)(13p11.2)::(19q13.2{r_arrow}19pter),t(19;20)(19q13.3{r_arrow}19qter::20qter) in the patient and 45,XX,-19,t(13;19),t(19;20) involving the same breakpoints in the mother. C-banding showed dicentric der(13). FISH using alpha-satellite DNA probes for 13/21 showed the presence of centromeric region of 13 in the der(13). Deletion of 13p11.2{r_arrow}pter was confirmed by negative Ag-NOR staining in der(13).
- OSTI ID:
- 134574
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1308
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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