Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.
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.
Morrissette
Jennifer J D
JJ
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Laufer-Cahana
Ayala
A
Medne
Livija
L
Russell
Karen L
KL
Venditti
Charles P
CP
Kline
Rochelle
R
Zackai
Elaine H
EH
Spinner
Nancy B
NB
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