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pro vyhledávání: '"Margaret Aronson"'
Publikováno v:
Pediatrics. 56:756-761
Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, —17, +t (17p; lOq) are described. From an analysis of the phenotypes of these patients and others reported with lOq trisomy, we p
Autor:
Julie Neidich, Elaine Zackai, Margaret Aronson, Beverly S. Emanuel, John M. Opitz, James F. Reynolds
Publikováno v:
American Journal of Medical Genetics. 27:707-710
Le locus de la phosphatase acide (PAC 1) a ete alternativement assigne a 2 regions contradictoires sur le bras court du chromosome 2. On presente l'observation clinique et cytogenetique a un malade avec une deletion interstitielle de 2 del(2) (p 23 p