PMID- 8328459 OWN - NLM STAT- MEDLINE DCOM- 19930809 LR - 20200824 IS - 0002-9297 (Print) IS - 1537-6605 (Electronic) IS - 0002-9297 (Linking) VI - 53 IP - 2 DP - 1993 Aug TI - Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). PG - 433-42 AB - Five cases with small supernumerary ring chromosomes are characterized at the molecular level. Routine chromosome banding analysis was insufficient for identification of the ring chromosomes, and none of them was DA/DAPI positive. Fluorescence in situ hybridization utilizing repetitive centromeric probes for all chromosomes has determined that one of these five ring chromosomes originates in each of chromosomes 4, 7, 8, 9, and 20. Chromosome painting with chromosome-specific libraries has confirmed this and excluded the involvement of additional chromosomes in the rearrangements. FAU - Blennow, E AU - Blennow E AD - Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden. FAU - Anneren, G AU - Anneren G FAU - Bui, T H AU - Bui TH FAU - Berggren, E AU - Berggren E FAU - Asadi, E AU - Asadi E FAU - Nordenskjold, M AU - Nordenskjold M LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Hum Genet JT - American journal of human genetics JID - 0370475 RN - 0 (Genetic Markers) SB - IM MH - Abnormalities, Multiple/*genetics MH - Adult MH - Child, Preschool MH - Chromosome Aberrations/*diagnosis/*genetics MH - Chromosome Disorders MH - Chromosomes, Human, Pair 20 MH - Chromosomes, Human, Pair 4 MH - Chromosomes, Human, Pair 7 MH - Chromosomes, Human, Pair 8 MH - Chromosomes, Human, Pair 9 MH - Female MH - *Genetic Markers MH - Holoprosencephaly/genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Male MH - *Ring Chromosomes PMC - PMC1682354 EDAT- 1993/08/01 00:00 MHDA- 1993/08/01 00:01 PMCR- 1994/02/01 CRDT- 1993/08/01 00:00 PHST- 1993/08/01 00:00 [pubmed] PHST- 1993/08/01 00:01 [medline] PHST- 1993/08/01 00:00 [entrez] PHST- 1994/02/01 00:00 [pmc-release] PST - ppublish SO - Am J Hum Genet. 1993 Aug;53(2):433-42.