Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.

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Title:	Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring.
Author(s):	Galjaard, R.J.; Linde, H. van der ; Eussen, B.H.; Vries, L.B.A. de ; Wouters, C.W. ; Oostra, B.A.; Graaff, E. de; Heutink, P.
Publication year:	2003
Source:	American Journal of Medical Genetics, vol. 121A, iss. 2, (2003), pp. 168-173
ISSN:	0148-7299
DOI:	https://doi.org/10.1002/ajmg.a.20165
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/157345
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Subject:	UMCN 1.2: Molecular diagnosis, prognosis and monitoring UMCN 5.1: Genetic defects of metabolism
Organization:	Rehabilitation Human Genetics Gynaecology
Journal title:	American Journal of Medical Genetics
Volume:	vol. 121A
Issue:	iss. 2
Page start:	p. 168
Page end:	p. 173
Abstract:	Postaxial polydactyly (PAP) is characterized by the presence of one or more extra ulnar or fibular digits or parts of it. PAP type B presents frequently as a skin tag on the hand(s). It is usually an isolated malformation, but in 6.6% it is associated with other congenital abnormalities, mostly well recognizable syndromes. We present a male with PAP-B only and his daughter with an extended phenotype including mental retardation and minor dysmorphisms. Both share a cytogenetically balanced t(4;7)(p15.2;q35), present in mosaicism in the father. We found microdeletions associated with the breakpoints. The chromosomal regions described here have not been previously associated with the PAP-B phenotype. We present the first case of an individual with isolated PAP-B and a submicroscopic chromosome abnormality.