De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies.
Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan.
Gwo-Chin
GC
Ma
Yu-Yuan
YY
Ke
Meng-Luen
ML
Lee
Long-Yen
LY
Tsao
Dong-Jay
DJ
Lee
Chin-Wen
CW
Yang
Shou-Jen
SJ
Kuo
Han-Yao
HY
Chiu
Ming
M
Chen
D000015:Abnormalities, Multiple / Q000235:genetics*; D000782:Aneuploidy; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000235:genetics*; D032681:Spectral Karyotyping