engleski

Proximal 6p trisomy due to unbalanced (X ; 6) translocation: clinical and cytogenetic characterization

Proximal 6p trisomies comprising the whole arm of chromosome 6 are exceedingly rare, only two cases being described in a live born infant to date. We describe an 23 month-old girl with proximal partial trisomy 6p11.2(r)pter and partial monosomy Xq23(r)ter as a result of unbalanced translocation (6 ; S9(P11.2-q23). She presented with short stature, failure to thrive and moderate mental retardation. The associated phenotype is compared with other reported cases of dup 6 involving adjacent regions. Although trisomic for the whole short arm of chromosome 6, she had only discrete facial dysmorphism characteristic of partial trisomy 6p and no associated malformations or abnormalities of visceral organs. She had subclass IgG deficiency which was not described previously in trisomy 6p patients. The abnormal phenotype of the patient is discussed in relation to the observed X-inactivation patterns in lymphocytes and skin fibroblasts and the variability of the patterns in different tissue.

6p trisomy; unbalanced translocation

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