PMID- 12558111 OWN - NLM STAT- MEDLINE DCOM- 20030425 LR - 20060706 IS - 1015-8146 (Print) IS - 1015-8146 (Linking) VI - 13 IP - 4 DP - 2002 TI - Partial proximal trisomy 10q syndrome: a new case. PG - 411-6 AB - We report a case of partial proximal trisomy of the long arm of chromosome 10 confirmed by fluorescence in situ hibridization (FISH) performed with whole chromosome 10 specific painting and specific yac clones. The phenotypic findings, compared to those found in other published cases with the same karyotype, support the recognition of a distinctive partial proximal trisomy 10q syndrome (10q11-->q22). FAU - Nucaro, A AU - Nucaro A AD - Istituto di ricerca sulle Talassemie e Anemie Mediterranee del CNR, Selargius, Cagliari, Italy. FAU - Faedda, A AU - Faedda A FAU - Cao, A AU - Cao A FAU - Boccone, L AU - Boccone L LA - eng PT - Case Reports PT - Journal Article PL - Switzerland TA - Genet Couns JT - Genetic counseling (Geneva, Switzerland) JID - 9015261 SB - IM MH - Abnormalities, Multiple/*genetics MH - Chromosomes, Artificial, Yeast MH - *Chromosomes, Human, Pair 10 MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Karyotyping MH - Phenotype MH - *Trisomy EDAT- 2003/02/01 04:00 MHDA- 2003/04/26 05:00 CRDT- 2003/02/01 04:00 PHST- 2003/02/01 04:00 [pubmed] PHST- 2003/04/26 05:00 [medline] PHST- 2003/02/01 04:00 [entrez] PST - ppublish SO - Genet Couns. 2002;13(4):411-6.