Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-8-10
pubmed:abstractText
We report a female infant born to a mother with incontinentia pigmenti (IP) and a father with haemophilia A, who manifests both disorders. Analysis of peripheral blood DNA from the infant, her mother, and two female relatives with IP showed a highly skewed pattern of X inactivation. Random patterns were observed in the infant's two sisters, who do not have IP and have normal carrier activity of factor VIII. Preferential inactivation of the X chromosome bearing the IP mutation, probably by negative selection, appears to have unmasked the factor VIII mutation on the infant's other X chromosome. This illustrates an unusual mechanism for the manifestation of an X linked disease in a heterozygous female.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1267462, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1404291, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1683292, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1693357, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1847690, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-1959916, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-2041762, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-2562819, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-2564852, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-2887283, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-2983207, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-3079642, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-3593964, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-3932885, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-4064360, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-4065895, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-5543880, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-6406906, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-6438525, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-6817017, http://linkedlifedata.com/resource/pubmed/commentcorrection/8326493-871406
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
497-500
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia.
pubmed:affiliation
Department of Dermatology, Hospitals for Sick Children, London, UK.
pubmed:publicationType
Journal Article, Case Reports