Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

Autor: Luciani, J.J., de Mas, P., Depetris, D., Mignon-Ravix, C., Bottani, A., Prieur, M., Jonveaux, P., Philippe, A., Bourrouillou, G., de Martinville, B., Delobel, B., Vallee, L., Croquette, M.-F., Mattei, M.-G.
Předmět:
Zdroj: Journal of Medical Genetics; Sep2003, Vol. 40 Issue 9, p690-696, 7p, 1 Color Photograph, 2 Diagrams, 1 Chart
Abstrakt: Studies patients with a pure 22q13 partial monosomy using molecular and cytogenic methods. Deletions; Phenotype-genotype correlations; Evidence of behavioral disorder; Minimum critical region responsible for the monosomy 22q13 phenotype.
Databáze: Complementary Index