Monosomy 21q: two cases of del(21q) and review of the literature.
We report on two cases of partial monosomy 21 and review cases with a partial or an apparently full monosomy 21. In situ hybridization and/or molecular studies appear to be necessary tools to study imbalance in such a small chromosome and to perform further genotype-phenotype correlations. The segregation mode in cases with a translocation is adjacent 1, adjacent 2, and 3:1 in about 1/4, 1/4 and 1/2 of the cases, respectively.
Huret
J L
JL
Laboratoire de Cytogénétique, CHU Poitiers, France.
Léonard
C
C
Chery
M
M
Philippe
C
C
Schafei-Benaissa
E
E
Lefaure
G
G
Labrune
B
B
Gilgenkrantz
S
S
D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy