Abstract
Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.
MeSH terms
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Abnormalities, Multiple / complications
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Abnormalities, Multiple / genetics
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Child, Preschool
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Chromosome Aberrations / genetics
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Chromosome Banding
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Chromosome Disorders
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Chromosome Mapping*
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Chromosomes, Human, 13-15 / ultrastructure*
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Female
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Genetic Markers
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Hexosaminidases / genetics*
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Humans
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Intellectual Disability / complications
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Intellectual Disability / genetics*
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Karyotyping
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Sex Chromosomes / ultrastructure*
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Translocation, Genetic*
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X Chromosome / ultrastructure*
Substances
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Genetic Markers
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Hexosaminidases