title: Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.
abstract: We present a patient with a hypoplastic left heart (HLH), dislocations of the hips and knees, and minor dysmorphic features, who had an abnormal karyotype that resulted in trisomy for 9p and a portion of 9q: 46,((, dic(or tri?)(9)(9pter --> 9q34::9q21 --> 9pter).ish(WCP9++).ish(D9Z5X4 +/+++). The derivative chromosome consisted of an additional copy of the proximal q arm and p arm attached to 9qter in an inverted fashion. Fluorescence in situ hybridization (FISH) using a chromosome 9 beta-satellite probe revealed three signals on the abnormal chromosome 9, suggesting the presence of 3 pericentromeric regions on the der(9). The 9q subtelomere was present on both the normal and derivative chromosome 9, suggesting that very little material, if any, is deleted.
authors: Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors: Jennifer J D
authors: JJ
authors: Morrissette
authors: Ayala
authors: A
authors: Laufer-Cahana
authors: Livija
authors: L
authors: Medne
authors: Karen L
authors: KL
authors: Russell
authors: Charles P
authors: CP
authors: Venditti
authors: Rochelle
authors: R
authors: Kline
authors: Elaine H
authors: EH
authors: Zackai
authors: Nancy B
authors: NB
authors: Spinner
mesh_terms: D002503:Centromere / Q000235:genetics; D002871:Chromosome Banding; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000235:genetics* / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014314:Trisomy