PMID- 9880213 OWN - NLM STAT- MEDLINE DCOM- 19990310 LR - 20190905 IS - 0148-7299 (Print) IS - 0148-7299 (Linking) VI - 80 IP - 5 DP - 1998 Dec 28 TI - Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in situ hybridization (FISH). PG - 487-90 AB - We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ hybridization with whole chromosome 18 painting probe (Oncor p5218). Our observation confirms the findings of other investigators that duplication 18p is not associated with major malformations. FAU - Li, S AU - Li S AD - Department of Medical Genetics, University of South Alabama, Mobile 36688-0002, USA. sli@usamail.usouthal.edu FAU - Tuck-Muller, C M AU - Tuck-Muller CM FAU - Martinez, J E AU - Martinez JE FAU - Rowley, E R AU - Rowley ER FAU - Chen, H AU - Chen H FAU - Wertelecki, W AU - Wertelecki W LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Am J Med Genet JT - American journal of medical genetics JID - 7708900 SB - IM MH - Chromosomes, Human, Pair 18/*genetics MH - Female MH - Fetal Alcohol Spectrum Disorders/genetics MH - *Gene Duplication MH - Humans MH - In Situ Hybridization, Fluorescence MH - Pregnancy MH - Prenatal Diagnosis MH - Trisomy EDAT- 1999/01/08 03:03 MHDA- 2000/06/20 09:00 CRDT- 1999/01/08 03:03 PHST- 1999/01/08 03:03 [pubmed] PHST- 2000/06/20 09:00 [medline] PHST- 1999/01/08 03:03 [entrez] AID - 10.1002/(SICI)1096-8628(19981228)80:5<487::AID-AJMG9>3.0.CO;2-Y [pii] AID - 10.1002/(sici)1096-8628(19981228)80:5<487::aid-ajmg9>3.0.co;2-y [doi] PST - ppublish SO - Am J Med Genet. 1998 Dec 28;80(5):487-90. doi: 10.1002/(sici)1096-8628(19981228)80:5<487::aid-ajmg9>3.0.co;2-y.