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A Submicroscopic Translocation, T(4 10), Responsible For Recurrent Wolf-Hirschhorn Syndrome Identified By Allele Loss And Fluorescent Insitu Hybridization

Lookup NU author(s): Professor Sir John BurnORCiD


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A 2 year old girl presented with developmental delay and subtle dysmorphic features suggestive of Wolf-Hirschhorn syndrome (WHS). High resolution chromosome analysis was normal in the child and both parents. Molecular analysis indicated that the child had not inherited a maternal allele of probes from 4p16, confirming the clinical diagnosis. Prenatal diagnosis in the next pregnancy showed that again the fetus had no maternal allele for probes mapping to 4p16. Fluorescent in situ hybridisation in the mother showed a submicroscopic translocation, t(4;10). A normal karyo-type in a child with clinical features of WHS is an indication for further investigation.

Publication metadata

Author(s): Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 1992

Volume: 29

Issue: 7

Pages: 451-454

Print publication date: 01/07/1992

ISSN (print): 0022-2593

Publisher: BMJ