PMID- 7889647 OWN - NLM STAT- MEDLINE DCOM- 19950418 LR - 20190816 IS - 0009-9163 (Print) IS - 0009-9163 (Linking) VI - 46 IP - 5 DP - 1994 Nov TI - Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques. PG - 364-7 AB - A 12 1/2-month-old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescence in situ hybridization (FISH) technique, the marker chromosome was identified as an isodicentric non-fluorescent Y chromosome ((45, X/46, X, idic (Ynf)/47, X, idic (Ynf), +idic (Ynf)). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow-up evaluations. FAU - Macera, M J AU - Macera MJ AD - Long Island College Hospital, SUNY Health Science Center at Brooklyn. FAU - Sherman, J AU - Sherman J FAU - Shah, H O AU - Shah HO FAU - Blumberg, D L AU - Blumberg DL FAU - Buttice, L S AU - Buttice LS FAU - Lin, J H AU - Lin JH FAU - Verma, R S AU - Verma RS LA - eng PT - Case Reports PT - Journal Article PL - Denmark TA - Clin Genet JT - Clinical genetics JID - 0253664 RN - 0 (Genetic Markers) SB - IM MH - Chromosome Banding MH - Female MH - Genetic Markers MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Turner Syndrome/diagnosis/*genetics MH - *Y Chromosome/genetics 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] AID - 10.1111/j.1399-0004.1994.tb04180.x [doi] PST - ppublish SO - Clin Genet. 1994 Nov;46(5):364-7. doi: 10.1111/j.1399-0004.1994.tb04180.x.