Trisomy 13 in the child of two carriers of a 13/15 translocation.
We report on an infant girl with trisomy 13 resulting from an inherited 13-15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13-15 translocation.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002901:Chromosomes, Human, 13-15; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy