Molecular and cytogenetic analysis of a familial microdeletion of Xq.
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.
Wessex Regional Genetics Laboratory, General Hospital, Salisbury.
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Wells
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Mould
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Robins
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Robinson
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Jacobs
D002871:Chromosome Banding; D002872:Chromosome Deletion; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009421:Nervous System Malformations; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome