Molecular and cytogenetic analysis of a familial microdeletion of Xq.
Open Access
- 1 March 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (3) , 163-166
- https://doi.org/10.1136/jmg.28.3.163
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.Keywords
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