ABSTRACT
Introdution: The Philadelphia chromosome was the first cytogenetic abnormality specific of malignant process. In 1960 Nowell and Hungerford associated this abnormality to the chronic myeloid leukemia. It's reciprocal translocation between the chromosome 9 [breakpoint: q34] and the 22 [breakpoint: q11]
Material and methods: We have searched the Ph1 chromosome with cytogenetic analysis at 170 patients affected by Chronic Myeloproliferative Disorders . Eighty nine patients were at the diagnosis step, six in acutisation, and seven in relapse, twelve in clinical remission. The evolutionary stage is unknown in the other cases
Results: The Ph1 chromosome: t [9;22][q34;q11] was found in 116 cases
Discussion: We discuss in this study, the interest of the Ph1 chromosome in order to confirm the diagnosis of chronic myeloid leukemia and to follow the patients under Interferon and imatinib [Glivec[*]]
ABSTRACT
We report in this article, analysis of the etiology of 510 observations of mental retardation seen in genetic service. The more part of our patients are children addressed to us for cytogenetic analysis or for opinion diagnosis by reason of a dysmorphic aspect. Etiological diagnosis has been determined in 441 cases. The mental retardation was chromosomal in origin in 426 cases, with in particular 398 children with Down syndrome, eleven trisomly 18, three syndromes of Wolf-Hirschhorn, one syndrome of Williams, three anomalies of gonosomes and ten chromosomal structure aberration. The mental retardation was of gentic origin in 15 patients with a transmission linked to the X chromosome in 8 cases, autosomal recessive transmission in 6 cases and autosomal dominant transmission in 1 case. The knowledge of the precise etiology of the mental retardation permits to pick up the handicapped person and especially it allows the geneticist to lavish an adequate genetic advice to the family members