PMID- 7633202 OWN - NLM STAT- MEDLINE DCOM- 19950908 LR - 20161013 IS - 0929-6646 (Print) IS - 0929-6646 (Linking) VI - 93 IP - 11-12 DP - 1994 Nov-Dec TI - Cytogenetic investigations in trisomy 21 with reciprocal 4/9 translocation: report of a case. PG - 958-60 AB - A 3-month-old male infant with Down's syndrome resulting from de novo trisomy 21 had an additional reciprocal translocation between the long arms of chromosomes 4 and 9: 47,XY,+21,rcp t(4;9)(q35;q22.3). Both C- and Ag-NOR bandings showed that the extra chromosome 21 was maternal in origin, but that the translocated chromosome 9 was from the father. To evaluate the nature of the translocation, fluorescence in situ hybridization (FISH) with whole chromosome painting probes (Coatasomes 4 & 9), followed by an enzymatic precipitation (HRP-DAB) assay was used. Whole chromosome FISH demonstrated the origin of the translocated region and clarified the karyotype. Enzymatic methods achieved the same result and were kept as a permanent record. FAU - Hou, J W AU - Hou JW AD - Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C. FAU - Wang, T R AU - Wang TR LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Singapore TA - J Formos Med Assoc JT - Journal of the Formosan Medical Association = Taiwan yi zhi JID - 9214933 SB - IM MH - *Chromosomes, Human, Pair 4 MH - *Chromosomes, Human, Pair 9 MH - Down Syndrome/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Male MH - *Translocation, Genetic EDAT- 1994/11/01 00:00 MHDA- 1994/11/01 00:01 CRDT- 1994/11/01 00:00 PHST- 1994/11/01 00:00 [pubmed] PHST- 1994/11/01 00:01 [medline] PHST- 1994/11/01 00:00 [entrez] PST - ppublish SO - J Formos Med Assoc. 1994 Nov-Dec;93(11-12):958-60.