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
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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.
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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

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