title: Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization.
abstract: In order to better characterize the chromosomic rearrangement of an unbalanced 45XX t(X;22) (q28;q11) DiGeorge patient, a somatic hybrid clone segregating the translocated chromosome was constructed and investigated using X and 22 linked markers. Our study demonstrated that this de novo translocation was from paternal origin. The breakpoint was assigned between DXS296 and IDS loci at Xq28 and between D22S9 and BCRL2 at 22q11. This observation and published data allow to locate a "critical region" for DiGeorge syndrome between these two last loci on 22q11. Our hybrid clone may be a useful tool for mapping new probes arising in this region.
authors: Unité de Recherches sur la Différenciation Cellulaire Intestinale INSERM U 178, Villejuif, France.
authors: P
authors: P
authors: Couillin
authors: J
authors: J
authors: Zucman
authors: E
authors: E
authors: Le Guern
authors: I
authors: I
authors: Reguigne
authors: M C
authors: MC
authors: Grisard
authors: O
authors: O
authors: Delattre
authors: G
authors: G
authors: Novelli
authors: B
authors: B
authors: Dallapiccola
authors: A
authors: A
authors: Boué
mesh_terms: D015139:Blotting, Southern; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D006824:Hybridization, Genetic; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers