A de novo translocation, 14q21q, with a microchromosome-14p21p.
A familial translocation, t(14;21)(14p21p;14q21q), in a mother and her child is described. The translocation was ascertained through the birth of a Down syndrome baby with the chromosome constitution 47,XX,-14, +der 14, +der 21,t(14;21)(q11;p12) mat. A 1:3 segregation in the maternal meiosis is suggested for the evolution of the unbalanced chromosome state. The main translocated chromosome 14q21q mimics the product of a Robertsonian translocation, while the 14p21p chromosome has the morphology of a satellited microchromosome. The cytogenetic nature of this translocation is discussed.
Abeliovich
D
D
Katz
M
M
Karplus
M
M
Carmi
R
R
D000328:Adult; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D014178:Translocation, Genetic