Document Detail

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.
MedLine Citation:
PMID:  9028459     Owner:  NLM     Status:  MEDLINE    
We report on a 12-month-old Japanese boy with an interstitial deletion of the long-arm of chromosome 1 and meningomyelocele, hydrocephalus, anal atresia, atrial septal defect, left renal agenesis, bilateral cryptorchidism, talipes equinovarus, low birth weight, growth/developmental retardation, and many minor anomalies. By conventional GTG-banding, his karyotype was first interpreted as 46,XY,del(1)(q23q24), but it was corrected as 46,XY.ish del(1)(q24q25.3) by fluorescence in situ hybridization using 11 known cosmid clones as probes. His serum levels of apolipoprotein A-II (gene symbol: APOA2, previously assigned to 1q21-q23) and coagulation factor V (F5, 1q21-q25) were normal, while serum concentration and activity of antithrombin III (AT3, 1q23-q25.1) was low. The results indicated that localization of APOA2 and F5 are proximal to the deleted region and AT3 is located within the deletion extent in the patient.
T Takano; Y Yamanouchi; Y Mori; S Kudo; T Nakayama; M Sugiura; S Hashira; T Abe
Related Documents :
17890169 - Pure proximal deletion of chromosome 21 and kyphosis.
7835879 - Kidney and retinal defects (krd), a transgene-induced mutation with a deletion of mouse...
17140829 - Ocular findings in the chromosome 22q11.2 deletion syndrome.
18524659 - Complex management of a patient with a contiguous xp11.4 gene deletion involving ornith...
2770699 - Extremely large chromosomal deletions are intimately involved in genetic instability an...
18666229 - Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitia...
11090339 - Genetic and physical mapping of the locus for autosomal dominant renal fanconi syndrome...
23407549 - Cbfa2t3-glis2 fusion transcript is a novel common feature in pediatric, cytogenetically...
14668489 - Gamma-tubulin plays an essential role in the coordination of mitotic events.
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  68     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Jan 
Date Detail:
Created Date:  1997-04-25     Completed Date:  1997-04-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  207-10     Citation Subset:  IM    
Department of Hygiene and Public Health, Teikyo University School of Medicine, Tokyo, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics*
Antithrombin III / analysis,  genetics*
Apolipoprotein A-II / analysis,  genetics*
Blood Coagulation Factors / analysis,  genetics*
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosomes, Human, Pair 1 / genetics*
DNA Probes / genetics
Gene Dosage
In Situ Hybridization, Fluorescence
Sequence Deletion*
Reg. No./Substance:
0/Apolipoprotein A-II; 0/Blood Coagulation Factors; 0/DNA Probes; 9000-94-6/Antithrombin III

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imp...
Next Document:  Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.