Journal article
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region
American journal of human genetics, Vol.57(3), pp.667-673
09/1995
PMCID: PMC1801256
PMID: 7668296
Abstract
Cat eye syndrome (CES) is typically associated with a supernumerary bisatellited marker chromosome (inv dup 22pter-22q11.2) resulting in four copies of this region. We describe an individual showing the inheritance of a minute supernumerary double ring chromosome 22, which resulted in expression of all cardinal features of CES. The size of the ring was determined by DNA dosage analysis and FISH analysis for five loci mapping to 22q11.2. The probes to the loci D22S9, D22S43, and ATP6E were present in four copies, whereas D22S57 and D22S181 were present in two copies. This finding further delineates the distal boundary of the critical region of CES, with ATP6E being the most distal duplicated locus identified. The phenotypically normal father and grandfather of the patient each had a small supernumerary ring chromosome and demonstrated three copies for the loci D22S9, D22S43, and ATP6E. Although three copies of this region have been reported in other cases with CES features, it is possible that the presence of four copies leads to greater susceptibility.
Details
- Title: Subtitle
- Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region
- Creators
- A J Mears - Department of Biological Sciences, University of Alberta, Edmonton, CanadaH el-Shanti - Department of Biological Sciences, University of Alberta, Edmonton, CanadaJ C Murray - Department of Biological Sciences, University of Alberta, Edmonton, CanadaH E McDermid - Department of Biological Sciences, University of Alberta, Edmonton, CanadaS R Patil - Department of Biological Sciences, University of Alberta, Edmonton, Canada
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.57(3), pp.667-673
- PMID
- 7668296
- PMCID
- PMC1801256
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 09/1995
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Medical Genetics and Genomics; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025319802771
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