RESUMO
The karyotype, leukemia cell morphology (FAB classification), ethnic group, age, sex, and survival were compared in 60 patients with acute nonlymphocytic leukemia (ANLL), to determine their diagnostic and prognostic significance. An ethnic age difference was observed; a significantly greater number of black patients were children. The majority of children were males. A higher frequency of chromosome abnormalities was detected in children, yet they survived longer than adults. A specific, significant association between a (8; 21) karyotype and M2-ANLL was confirmed; four of ten patients with M2-ANLL showed this translocation. The more mature morphology of M2-ANLL was associated with a longer survival irrespective of karyotype, ethnic group, and age. The specificity of t(15; 17) in M3-ANLL and nonrandom monosomy 7 in preleukemic children was confirmed. Patients, particularly adults, with normal karyotypes tended to survive longer than those with abnormal karyotypes. The patient's age and the differentiative capacity of the leukemic cell appear to be as important as the karyotype in determining survival. The nonrandom association of certain chromosome aberrations in ANLL appears to be worldwide.
Assuntos
Aberrações Cromossômicas , Leucemia/genética , Doença Aguda , Adolescente , Adulto , Fatores Etários , Idoso , Criança , Pré-Escolar , Cromossomos Humanos 13-15 , Cromossomos Humanos 16-18 , Cromossomos Humanos 21-22 e Y , Cromossomos Humanos 6-12 e X , Etnicidade , Feminino , Humanos , Lactente , Cariotipagem , Leucemia/mortalidade , Masculino , Pessoa de Meia-Idade , Translocação Genética , TrissomiaRESUMO
Two phenotypically abnormal, unrelated children with deletion of the distal segment of 7q (7q32 leads to pter) are described. In one instance the mother was the carrier of a balanced translocation between chromosomes 6 and 7, and in the second case the deletion was a de novo event. Their phenotype were compared to previously reported cases and found to have many non-specific clinical features in common. Gene marker studies for some of the genes tentatively localized to chromosome 7 showed no anomalous segregation. The Hageman coagulation factor (Factor XII) activity in both probands was normal, and heterozygosity for alleles of the Kidd blood group in the first proband excludes assignment of the Kidd locus to the distal portion of chromosome 7q.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos 6-12 e X , Marcadores Genéticos , Anormalidades Múltiplas/sangue , Testes de Coagulação Sanguínea , Fatores Quimiotáticos , Pré-Escolar , Bandeamento Cromossômico , Feminino , Triagem de Portadores Genéticos , Humanos , Deficiência Intelectual/sangue , Deficiência Intelectual/genética , Masculino , Translocação GenéticaRESUMO
The Giemsa-banded karyotype of the chacma baboon, Papio ursinus, was shown to be identical to that of Papio hamadryas. Comparison of G-banded P. ursinus (PUR) chromosomes with those of man (HSA) showed close morphological homoeology between PUR and HSA chromosomes 5, 8, 12, 19, and X, and partial homology for seven and 22 and was the only Papio chromosome containing a nucleolar organizer region (NOR). This baboon chromosome, therefore, shows genetic homoeology with human acrocentrics for a least 18S and 28S rRNA gene loci. It is postulated that HSA 15 and 22 originated from the fission of a larger submetacentric chromosome in a lower primate.
