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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1984-4-24
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pubmed:abstractText |
X-inactivation patterns were studied by replication analyses both in lymphocytes and skin fibroblasts of two patients carrying balanced X-autosome translocations, t(X;10)-(pter;q11) and t(X;17)(q11;q11), and one patient with an unbalanced translocation t(X;22)(p21;q11). Preferential late replication of the normal X chromosome was found in lymphocytes of both patients carrying balanced translocations and in skin fibroblasts of the patient carrying the translocation t(X;17). However, skin fibroblasts of the patient with a translocation t(X;10) showed preferential late replication of the abnormal der(X) chromosome with no spreading of late replication to the autosomal segment. In the case of unbalanced translocation t(X;22) there was preferential late replication of the der(X) chromosome both in lymphocytes and skin fibroblasts. The abnormal phenotype of the patients is discussed in relation to the observed X-inactivation patterns and the variability of the patterns in different tissues.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
71-6
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:6698557-Adult,
pubmed-meshheading:6698557-Chromosome Banding,
pubmed-meshheading:6698557-Chromosomes, Human, 16-18,
pubmed-meshheading:6698557-Chromosomes, Human, 21-22 and Y,
pubmed-meshheading:6698557-Chromosomes, Human, 6-12 and X,
pubmed-meshheading:6698557-Dosage Compensation, Genetic,
pubmed-meshheading:6698557-Female,
pubmed-meshheading:6698557-Fibroblasts,
pubmed-meshheading:6698557-Humans,
pubmed-meshheading:6698557-Infant,
pubmed-meshheading:6698557-Infant, Newborn,
pubmed-meshheading:6698557-Karyotyping,
pubmed-meshheading:6698557-Lymphocytes,
pubmed-meshheading:6698557-Phenotype,
pubmed-meshheading:6698557-Sex Chromosome Aberrations,
pubmed-meshheading:6698557-Skin,
pubmed-meshheading:6698557-Translocation, Genetic,
pubmed-meshheading:6698557-X Chromosome
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pubmed:year |
1984
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pubmed:articleTitle |
X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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