[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].
A newborn infant is reported with a karyotype showing a partial trisomy 10 (10pter leads to 10q21) and a partial monosomy 21 (21pter leads to 21q21) due to a reciprocal balanced familial translocation t(10;21)(q21;q21). This is the first case of partial trisomy 10 for the segment 10pter leads to 10q21.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie partielle (10 pter leads to 10q21) et monosomie partielle (21pter leads to 21q21) dues a une translocation réciproque familiale équilibrée (10;21) (q21;q21).