[Molecular cytogenetic study of Robertsonian translocation 13;14 and Down syndrome in a 3-year-old infant].
We describe here a rare case of Robertsonian translocation 13;14 of maternal origin combined with regular trisomy 21 (46,XX,der(13;14)(q10;q10)mat,+21) with Down syndrome phenotype. Molecular cytogenetic studies allowed us to determine the maternal origin of additional chromosome 21 and the non-disjunction of chromosome 21 to occur in meiosis I. On the basis of data obtained we discuss the possible involvement of structural alterations of chromosomes 13 and 14 in the chromosome 21 non-disjunction.
Iurov
I Iu
IIu
Vorsanova
S G
SG
Monakhov
V V
VV
Beresheva
A K
AK
Solov'ev
I V
IV
Iurov
Iu B
IuB
D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D002883:Chromosomes, Human, Pair 14; D020732:Cytogenetic Analysis; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D009630:Nondisjunction, Genetic; D010375:Pedigree; D014178:Translocation, Genetic