A boy with ring chromosome 15 derived from a t(15q;15q) Robertsonian translocation in the mother: cytogenetic and biochemical findings.
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 leads to cen leads to 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 leads to q13. Data from enzyme assays suggest that this duplicated region carries the alpha-mannosidase gene.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D005149:Facial Expression; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006596:Hexosaminidases / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008361:Mannosidases / Q000235:genetics*; D011110:Polymorphism, Genetic; D014178:Translocation, Genetic; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases
D006596:Hexosaminidases; D008361:Mannosidases; D043323:alpha-Mannosidase; D001619:beta-N-Acetylhexosaminidases