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. 1991 Mar;28(3):163–166. doi: 10.1136/jmg.28.3.163

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

S Wells 1, S Mould 1, D Robins 1, D Robinson 1, P Jacobs 1
PMCID: PMC1016798  PMID: 1675684

Abstract

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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