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Analysis of clinical variation seen in patients with 18q terminal deletions.
Am J Med Genet 1995; 59(4):476-83AJ

Abstract

Twenty-six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q- syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions ranging from 18q21.1-qter to 18q22.3-qter were detected. The parental origin of the deletions was determined by the analysis of inheritance of microsatellite markers. No correlation between size, parental origin, or severity of the resulting phenotype was found. The results suggest that a critical region for 18q- syndrome lies in the most distal portion of 18q and that it confers susceptibility for the various clinical manifestations of the 18q- syndrome when present in one copy.

Authors+Show Affiliations

Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8585568

Citation

Strathdee, G, et al. "Analysis of Clinical Variation Seen in Patients With 18q Terminal Deletions." American Journal of Medical Genetics, vol. 59, no. 4, 1995, pp. 476-83.
Strathdee G, Zackai EH, Shapiro R, et al. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet. 1995;59(4):476-83.
Strathdee, G., Zackai, E. H., Shapiro, R., Kamholz, J., & Overhauser, J. (1995). Analysis of clinical variation seen in patients with 18q terminal deletions. American Journal of Medical Genetics, 59(4), pp. 476-83.
Strathdee G, et al. Analysis of Clinical Variation Seen in Patients With 18q Terminal Deletions. Am J Med Genet. 1995 Dec 4;59(4):476-83. PubMed PMID: 8585568.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of clinical variation seen in patients with 18q terminal deletions. AU - Strathdee,G, AU - Zackai,E H, AU - Shapiro,R, AU - Kamholz,J, AU - Overhauser,J, PY - 1995/12/4/pubmed PY - 1995/12/4/medline PY - 1995/12/4/entrez SP - 476 EP - 83 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 59 IS - 4 N2 - Twenty-six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q- syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions ranging from 18q21.1-qter to 18q22.3-qter were detected. The parental origin of the deletions was determined by the analysis of inheritance of microsatellite markers. No correlation between size, parental origin, or severity of the resulting phenotype was found. The results suggest that a critical region for 18q- syndrome lies in the most distal portion of 18q and that it confers susceptibility for the various clinical manifestations of the 18q- syndrome when present in one copy. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8585568/Analysis_of_clinical_variation_seen_in_patients_with_18q_terminal_deletions_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=59&issue=4&spage=476 DB - PRIME DP - Unbound Medicine ER -