A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?
- 13 June 2008
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 146A (14), 1886-1889
- https://doi.org/10.1002/ajmg.a.32359
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridizationHuman Mutation, 2007
- An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behaviorAmerican Journal of Medical Genetics Part A, 2007
- Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplicationsBMC Medical Genetics, 2007
- Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case reportClinical Dysmorphology, 2006
- Detection of large-scale variation in the human genomeNature Genetics, 2004
- Goldenhar sequence and mosaic trisomy 22American Journal of Medical Genetics, 1995
- Trisomy 22 and facioauriculovertebral (Goldenhar) sequenceAmerican Journal of Medical Genetics, 1993
- Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)American Journal of Medical Genetics, 1988
- Oculoauriculovertebral anomaly: Variability and causal heterogeneityAmerican Journal of Medical Genetics, 1988
- Hemifacial microsomia and variants: Pedigree dataAmerican Journal of Medical Genetics, 1983