Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear anomalies and torticollis. To our knowledge, this is the smallest duplication reported to date. Our findings support the notion that increased copy number of CHD7 may underlie the phenotype of the 8q12 duplication. Our study together with previous studies suggest that the 8q12 duplication could be defined as a novel syndrome.
Clinical Center for Gene Diagnosis and Therapy of State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan Province 410011, China.
Hong
H
Luo
Li
L
Xie
Shou-Zheng
SZ
Wang
Jin-Lan
JL
Chen
Can
C
Huang
Jian
J
Wang
Jin-Fu
JF
Yang
Wei-Zhi
WZ
Zhang
Yi-Feng
YF
Yang
Zhi-Ping
ZP
Tan
D058747:CHARGE Syndrome / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D058674:Chromosome Duplication; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004370:Duane Retraction Syndrome / Q000175:diagnosis; D004423:Ear / Q000002:abnormalities; D005260:Female; D018628:Gene Dosage; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D010641:Phenotype; D063189:Symptom Assessment; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000175:diagnosis / Q000235:genetics; D014103:Torticollis / Q000175:diagnosis / Q000235:genetics
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human