DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q)

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...

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Bibliographic Details
Published in:American journal of medical genetics 1997-12, Vol.73 (4), p.408-411
Main Authors: Bamforth, J. S., Lin, C. C.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child
Chromosome Deletion
Chromosomes, Human, Pair 13
Complex syndromes
del(13q)
DK phocomelia
Ectromelia - genetics
Face - abnormalities
Female
Fetal Growth Retardation - genetics
Fingers - abnormalities
Humans
Intellectual Disability - genetics
Male
Medical genetics
Medical sciences
Mosaicism
Pregnancy
Seizures
Syndrome
Citations: Items that this one cites
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Summary: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). Am. J. Med. Genet. 73:408–411, 1997. © 1997 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19971231)73:4<408::AID-AJMG7>3.0.CO;2-J