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Type: Journal article
Title: X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation
Author: Woffendin, H.
Jakins, T.
Jouet, M.
Stewart, H.
Landy, S.
Haan, E.
Harris, A.
Donnai, D.
Read, A.
Kenwrick, S.
Citation: Clinical Genetics: an international journal of genetics and molecular medicine, 1999; 55(1):55-60
Issue Date: 1999
ISSN: 0009-9163
Abstract: Familial incontinentia pigmenti (IP) is an X-linked dominant disorder with an extremely variable clinical presentation. Ambiguous diagnosis can complicate genetic counselling and attempts to refine the gene location in Xq28. Marked skewing of X-inactivation patterns is a hallmark of IP and provides a means for investigating uncertain cases. We have conducted X-inactivation studies in three families where Xq28 marker studies were at odds with the original clinical assessment. The results indicate that no recombination between the disease locus and Xq28 loci has occurred and suggest that mosaicism is responsible for the discrepancy in one family.
Keywords: X Chromosome
Incontinentia Pigmenti
Genetic Markers
Chromosome Mapping
Genetic Counseling
Recombination, Genetic
Dosage Compensation, Genetic
Description: Article first published online: 24 DEC 2001
Rights: Copyright © 1999 John Wiley & Sons, Inc. All Rights Reserved.
DOI: 10.1034/j.1399-0004.1999.550110.x
Appears in Collections:Aurora harvest
Paediatrics publications

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