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DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q).
Am J Med Genet. 1997 Dec 31; 73(4):408-11.AJ

Abstract

DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12).

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Publisher Full Text

Authors+Show Affiliations

Bamforth JS
Department of Medical Genetics, University of Alberta, Edmonton, Canada.
Lin CC
No affiliation info available

MeSH

AdultChildChromosome DeletionChromosomes, Human, Pair 13EctromeliaFaceFemaleFetal Growth RetardationFingersHumansIntellectual DisabilityMaleMosaicismPregnancySeizuresSyndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

9415466

Citation

Bamforth, J S., and C C. Lin. "DK Phocomelia Phenotype (von Voss-Cherstvoy Syndrome) Caused By Somatic Mosaicism for Del(13q)." American Journal of Medical Genetics, vol. 73, no. 4, 1997, pp. 408-11.
Bamforth JS, Lin CC. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). Am J Med Genet. 1997;73(4):408-11.
Bamforth, J. S., & Lin, C. C. (1997). DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). American Journal of Medical Genetics, 73(4), 408-11.
Bamforth JS, Lin CC. DK Phocomelia Phenotype (von Voss-Cherstvoy Syndrome) Caused By Somatic Mosaicism for Del(13q). Am J Med Genet. 1997 Dec 31;73(4):408-11. PubMed PMID: 9415466.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q). AU - Bamforth,J S, AU - Lin,C C, PY - 1998/2/7/pubmed PY - 2000/6/20/medline PY - 1998/2/7/entrez SP - 408 EP - 11 JF - American journal of medical genetics JO - Am J Med Genet VL - 73 IS - 4 N2 - DK phocomelia (von Voss-Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities. Lubinsky et al. [1994: Am J Med Genet 52:272-278] pointed out similarities between this and the del(13q) syndrome. To date, all reported cases of DK phocomelia have been apparently normal chromosomally. We report on a case of DK phocomelia in which the proposita had normal lymphocyte chromosomes, but was mosaic in fibroblasts for del(13)(q12). Fibroblast chromosomes studies on other cases of DK phocomelia have not been reported: this raises the possibility that some cases of DK phocomelia may be somatic mosaics for del(13)(q12). SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9415466/DK_phocomelia_phenotype__von_Voss_Cherstvoy_syndrome__caused_by_somatic_mosaicism_for_del_13q__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1997&volume=73&issue=4&spage=408 DB - PRIME DP - Unbound Medicine ER -