A boy with ring chromosome 15 derived from a t(15q;15q) robertsonian translocation in the mother: Cytogenetic and biochemical findings

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Abstract
We describe a boy with a ring chromosome 15, showing the manifestations characteristic of this condition, ie, growth deficiency and unusual facial appearance with minor anomalies. The ring was derived from a t(15q;15q) chromosome of the mother, who had also had four spontaneous abortions. The respective karyotypes were 45, XX, −15, −15, +t(15q;15q) (mother) and 46,XY, − 15, + r(15q;15q)mat (15q13 → cen → 15q26)(son). The ring chromosome lacked the short arms of the two translocated chromosomes 15 and was duplicated for a portion of the long arms near the centromere, probably cen → q13. Data from enzyme assays suggest that this duplicated region carries the α‐mannosidase gene.