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Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia

✍ Scribed by Pulst, Stefan-M. ;Pribyl, Thomas ;Barker, David F. ;Riccardi, Vincent M. ;Ren, Meina ;Yaari, Hana ;Korenberg, Julie R.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 352 KB
Volume: 40
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320400117

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

The gene for von Recklinghausen neurofibromatosis (NF1) is on proximal 17q; the location of the gene for achondroplasia (ACH) is unknown. We have begun a molecular analysis of a patient with mental retardation, NF1 and ACH, a clinical presentation suggestive of a contiguous gene syndrome. In addition, this individual has a 47,XYY chromosome constitution. To define a possible chromosome 17 deletion, we investigated the copy number of DNA sequences linked to NF1 with conventional and pulsed‐field gel electrophoresis (PFGE). We found no evidence for a deletion on chromosome 17. These results make it unlikely that this patient harbors a single deletion in the NF1 region causing both NF1 and ACH and suggest different mechanisms for the de novo occurrence of 2 autosomal dominant disorders in this individual.

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