title: Monosomy 21q: two cases of del(21q) and review of the literature.
abstract: 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.
authors.affiliation: Laboratoire de Cytogénétique, CHU Poitiers, France.
authors.forename: J L
authors.initials: JL
authors.lastname: Huret
authors.forename: C
authors.initials: C
authors.lastname: Léonard
authors.forename: M
authors.initials: M
authors.lastname: Chery
authors.forename: C
authors.initials: C
authors.lastname: Philippe
authors.forename: E
authors.initials: E
authors.lastname: Schafei-Benaissa
authors.forename: G
authors.initials: G
authors.lastname: Lefaure
authors.forename: B
authors.initials: B
authors.lastname: Labrune
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
mesh_terms: D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy