Molecular characterization of the marker chromosome associated with cat eye syndrome
Journal Article
·
· American Journal of Human Genetics; (United States)
OSTI ID:6822708
- Univ. of Alberta, Edmonton (Canada)
- Queen's Univ. and Kingston General Hospital, Ontario (Canada)
- Children's Hospital of Philadelphia, PA (United States)
- Hospital for Sick Children, Toronto (Canada)
- Children's Hospital, Winnipeg (Canada)
Cat eye syndrome (CES) is associated with a supernumerary bisatellited marker chromosome which is derived from duplicated regions of 22pter-22q11.2. In this study the authors have used dosage and RFLP analyses on 10 CES patients with marker chromosomes, by using probes to five loci mapped to 22q11.2. The sequences recognized by the probes D22S9, D22S43, and D22S57 are in four copies in all patients, but the sequences at the more distal loci, D22S36 and D22S75, are duplicated only in some individuals. D22S36 is present in three copies in some individuals, and D22S75 is present in two copies in the majority of cases. Only three individuals have a duplication of the most distal locus examined (D22S75), and these individuals have the largest marker chromosomes identified in this study. From the dosage analysis it was found that the marker chromosomes are variable in size and can be asymmetric in nature. There is no obvious correlation between the severity of the phenotype and the size of the duplication. The distal boundary of the CES critical region (D22S36) is proximal to that of DiGeorge syndrome, a contiguous-gene-deletion syndrome of 22q11.2. 35 refs., 3 figs., 2 tabs.
- OSTI ID:
- 6822708
- Journal Information:
- American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 55:1; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region
Absence of {lambda} immunoglobulin sequences on the supernumerary chromosome of the {open_quotes}cat eye{close_quotes} syndrome
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region
Journal Article
·
Fri Sep 01 00:00:00 EDT 1995
· American Journal of Human Genetics
·
OSTI ID:110960
Absence of {lambda} immunoglobulin sequences on the supernumerary chromosome of the {open_quotes}cat eye{close_quotes} syndrome
Journal Article
·
Mon Sep 11 00:00:00 EDT 1995
· American Journal of Medical Genetics
·
OSTI ID:450744
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:134459