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Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9
Author(s) -
Morrissette Jennifer J.D.,
LauferCahana Ayala,
Medne Livija,
Russell Karen L.,
Venditti Charles P.,
Kline Rochelle,
Zackai Elaine H.,
Spinner Nancy B.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20293
Subject(s) - derivative chromosome , karyotype , fluorescence in situ hybridization , trisomy , chromosome , subtelomere , chromosome 9 , biology , genetics , anatomy , gene
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 β‐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. © 2003 Wiley‐Liss, Inc.