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Case Reports
. 1991 Mar;28(3):163-6.
doi: 10.1136/jmg.28.3.163.

Molecular and cytogenetic analysis of a familial microdeletion of Xq

S Wells  1 , S Mould, D Robins, D Robinson, P Jacobs
Affiliations
Case Reports

Molecular and cytogenetic analysis of a familial microdeletion of Xq

S Wells et al. J Med Genet. 1991 Mar.

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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References

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