Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region

Journal Article · Fri Sep 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:110960

Mears, A J; McDermid, H E ^[1]; El-Shanti, H ^[2]

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1. Univ. of Alberta, Edmonton (Canada)
2. Jordan Univ. of Science and Technology, Irbid (Jordan); and others

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. 35 refs., 4 figs., 2 tabs.

• OSTI ID: 110960
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
DNA HYBRIDIZATION
FLUORESCENCE
GENES
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOME 22
MENTAL DISORDERS
PATIENTS
PHENOTYPE
PROBES
RING CHROMOSOMES