ABSTRACT
Neutrality investigations of markers with forensic use are important to see if a phenotypic trait is being expressed in relation to the alleles of the marker. MiniSTR marker D22S1045 (locus 22q12.3) is localized near the breakpoint region of the EWS gene (22q12.2), which leads to the development of Ewing's Sarcoma. Analyzing allele frequencies and linkage disequilibrium in Ewing's sarcoma patients and non-affected populations, we found that the marker mD22S1045 was neutral when related to Ewing's Sarcoma.
Subject(s)
Chromosomes, Human, 21-22 and Y/genetics , Forensic Genetics/methods , Linkage Disequilibrium/genetics , Sarcoma, Ewing/genetics , Alleles , Case-Control Studies , DNA Fingerprinting/methods , Genetic Markers , Humans , Microsatellite Repeats/genetics , PhenotypeABSTRACT
Acute Myeloid Leukemia is a clinically and genetically heterogeneous disease, in which cytogenetic aberrations are the most important factors to determine biological behavior and prognosis. More than 20 different chromosomal abnormalities have been identified in a high percentage of children (70-85%) with the novo AML. We reviewed the most frequently found and the impact of these aberrations on prognosis. Differences according to the age of patients and mainly in relation to adult population have been enhanced, although the low incidence of AML in children and the high number of abnormalities make difficult to accurately define the prognosis significance of these aberrations.
Subject(s)
Chromosome Aberrations , Leukemia, Myeloid, Acute/genetics , Leukemia, Myeloid, Acute/pathology , Adolescent , Age Factors , Child , Child, Preschool , Chromosomes, Human, 1-3 , Chromosomes, Human, 13-15 , Chromosomes, Human, 16-18 , Chromosomes, Human, 21-22 and Y , Chromosomes, Human, 6-12 and X , Cytogenetic Analysis , Gene Expression , Humans , Infant , Karyotyping , Leukemia, Myeloid, Acute/drug therapy , Leukemia, Myeloid, Acute/metabolism , Mutation , PrognosisABSTRACT
Se presentan dos pacientes con trisomía 21 en quienes el análisis cromosómico reveló translocaciones poco usuales. En el primer caso se trataba de una translocación en tandem donde dos cromosomas 21 estaban unidos al brazo largo del cromosoma 10 (45, xx + tan (10;21;21)). En el segundo caso se evidenció la presencia de una translocación entre dos cromosomas 21 unidos a través de sus brazos largos en translocación tanden invertida (46, XY + dic(21q:21q)). El cuadro clínico de ambos pacientes no difería de los hallazgos usuales en esta enfermedad. En ambos casos el cariotipo de los progenitores era normal por lo que se asume que las anomalías cromosómicas fueron eventos "de novo". Se enfatiza la necesidad de realizar cariotipo en todo paciente con síndrome de down
Subject(s)
Humans , Male , Female , Chromosome Aberrations , Chromosomes, Human, 21-22 and Y , Down Syndrome , Translocation, Genetic , Trisomy , Medicine , VenezuelaABSTRACT
AIMS: To present data obtained from human bone marrow preparations from healthy individual showing that the proportion of metaphases with silver stained nucleolar organiser region (AgNOR) chromosomes is associated with the age of the donor. METHODS: Bone marrow preparations from eight Russian and 10 Argentinian healthy individuals donating bone marrow for heterologous transplantation were studied by silver staining. The Russian bone marrow preparations were used directly, while the bone marrow specimens from Argentinian donors were incubated for 24 hours at 37 degrees C in F-10 medium with 15% fetal bovine serum. The slides were silver stained by the one step method of Howell and Black with slight modifications. Thirty metaphases with clearly defined D and G group chromosomes were scored for the numbers of AgNORs. All metaphases that were adjacent to silver stained interphase nuclei were analysed to assess the percentage of AgNOR positive mitoses. The Kruskal Wallis test and Kendall's rank correlation coefficient (rK) were used to assess the relation between age and the percentage of AgNOR positive cells. RESULTS: The mean numbers (SE) of AgNORs per metaphase were 5.06 (0.17) and 5.56 (0.23) for the Russian and Argentinian groups, respectively, with no significant differences between the two groups. The common percentage of AgNOR positive cells decreased significantly as a function of age, with an rK = -0.57 (p < 0.0012). CONCLUSIONS: The percentages of AgNOR negative metaphases in bone marrow from healthy individuals is strongly associated with age and this may be related to age related telomere loss.
Subject(s)
Aging/genetics , Chromosomes, Human, 13-15 , Chromosomes, Human, 21-22 and Y , Nucleolus Organizer Region/genetics , Adolescent , Adult , Bone Marrow Cells/ultrastructure , Child , Female , Humans , Male , Metaphase/genetics , Middle Aged , Mitosis/genetics , Silver StainingABSTRACT
Thirty five female patients with different stages of neoplastic lesions: cervical intraepithelial neoplasia (CIN) or dysplasia (CIN I and CIN II), in situ carcinoma (CIS), and adenocarcinoma, and 27 healthy women (controls) wee studied to determine the activity, satellite association, and jpolymorphism of Ag stained nucleolus organizer regions (Ag+NORs) in acrocentric chromosomes in metaphases obtained from peripheral blood lymphocytes. For each person, 25 to 50 metaphases stained with ammoniacal silver technique were scored. The average number of Ag+ NORs was higher in women with adenocarcinoma (7.66 ñ 0.72) than in controls (6.65 ñ 0.74). Non-associated chromosomes showing Ag+ NORs were found more frequently in patients (5.85 ñ 0.88) than in controls (4.81 ñ 0.67). Patients aged 30-39 and 60 or more had an increase of Ag+ NORs (7.99 ñ 1.04, and 7.81 ñ0.71) with respect to their controls (6.36 ñ 0.052 and 6.17 ñ 0.88), but the frequency of satellite association showed lower values in 50 -59 year-old patients (0.75 ñ 0.08) than in controls (1.02 ñ 0.19). The most frequent association in patients was the large type (patients = 38.96 perecent, controls 30.49 ). The partial association showed higher values (6.49 percent) than controls (2.44 percent). Otherwise, the spherical association was more frequent for controls (37.80 percent) than for patients (28.57 percent). All these differences were statistically significant (p<0.05). The frequency of Ag+ NORs and the type of polymorphism of satellite association could be related to the neoplastic process, while the frequency of satellite association and of polymorphism of Ag+ NORs seems to be irrelevant
Subject(s)
Humans , Female , Adult , Middle Aged , Adenocarcinoma/ultrastructure , Carcinoma in Situ/ultrastructure , Uterine Cervical Dysplasia/ultrastructure , Chromosomes, Human, 13-15/ultrastructure , Chromosomes, Human, 21-22 and Y/ultrastructure , Lymphocytes/ultrastructure , Nucleolus Organizer Region/ultrastructureABSTRACT
Foram analisadas as regiöes organizadoras de nucléolos em cromossomos metafásicos de 16 mulheres normais e 16 pacientes com carcinoma de endométrio. Para essa análise foi aplicada a técnica de bandamento NOR, onde foram contados os cromossomos dos grupos D e G bandados. Verificamos que a atividade AG-NOR é significativamente mais alta nos cromossomos do grupo G de pacientes com carcinoma de endométrio, quando comparados com o grupo controle. É possível que a atividade gênica do rDNA em linfócitos PHA-estimulados está aumentada em pacientes com carcinoma de endométrio devido à liberaçäo de mediadores plasmáticos liberados pelas células neoplásicas. Provavelmente os cromossomos do grupo G säo mais sensíveis a tais mediadores do que aqueles do grupo D. Embora näo tenha sido observada diferença significativa entre pacientes com adenocarcinoma de mama e carcinoma de endométrio, a grande diferença de ambos os grupos quando comparadas com o controle foi devido às pacientes com carcinoma de endométrio, onde a frequência altamente significativa de Ag-NORs foi observada nos cromossomos do grupo G. Esta diferença poderia estar relacionada com a localizaçäo do tumor
Subject(s)
Humans , Female , Chromosomes, Human, 21-22 and Y/physiology , Lymphocytes/physiology , Nucleolus Organizer Region/physiology , Uterine Neoplasms/genetics , Breast Neoplasms/geneticsSubject(s)
Chromosomes, Human, 21-22 and Y , Down Syndrome/genetics , Child , Chromosome Banding , HumansABSTRACT
En los últimos años se han delineado tres entidades que involucran trisomía del cromosoma 22 y que comparten ciertas manifestaciones clínicas: el síndrome de ojo de gato, la trisomía parcial y la trisomía total 22, cuya existencia en recién nacidos aún está en controversia. Se describe un caso de trisomía 22 total, por translocación (15;22) "de novo", que falleció en el período de recién nacido con malformaciones pulmonares no descritas, y dos pacientes con una trisomía 22 parcial, (47, XX y XY, + der(22), t(11;22) (q25;q13) mat) debida a una segregación 3:1 en sus madres, quienes son portadoras de una translocación balanceada (11;22). Se discuten los hallazgos clínicos y citogenéticos de los probandos y sus familiares, así como los riesgos de recurrencia de estas trisomías
Subject(s)
Infant, Newborn , Infant , Child, Preschool , Humans , Male , Female , Chromosomes, Human, 21-22 and Y , TrisomyABSTRACT
A family is presented in which both siblings and their father had evidence of third-fourth pharyngeal pouch syndrome (DiGeorge syndrome). All three individuals had hypocalcemia and unusual facies. Both infants had truncus arteriosus. One infant had evidence of impaired cell-mediated immunity; the father had a relatively decreased number of T-lymphocytes. The syndrome is uncommon, most cases being isolated, and familial presentations are even rarer. Two recent reports described several affected individuals who also had partial deletions of chromosome 22. Chromosome banding studies in our family were normal. Thus our family demonstrates an autosomal dominant pattern of inheritance, although it cannot be proved that this is a single gene defect. We propose that inasmuch as the presentation of the syndrome is quite varied, thorough family investigation including high-resolution cytogenetic analysis is necessary. Familial cases may be more common and require genetic counseling.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , DiGeorge Syndrome/genetics , Immunologic Deficiency Syndromes/genetics , Chromosomes, Human, 21-22 and Y , DiGeorge Syndrome/transmission , Genetic Counseling , Humans , Hypocalcemia/etiology , Infant, Newborn , Karyotyping , Male , Pedigree , Truncus Arteriosus, Persistent/etiologyABSTRACT
La trombocitosis primaria es un sindrome mieloproliferativo maligno diferente a la leucemia granulocitica cronica. Hasta la fecha, solo se ha descrito un caso de trombocitosis primaria con la translocacion cromosomica: t (9q+; 22q-).Se describe aqui otro caso de trombocitosis primaria con cromosoma Philadelphia (Phl+), que ademas desarrollo finalmente leucemia aguda mieloide, ocurrencia poco frecuente. Se discute el hallazgo en las celulas de la alteracion cromosomica encontrada que sugiere que el evento (Phl+) no ocurre en las celulas de la serie granulocitica sino probablemente en la celula madre totipotencial
Subject(s)
Adult , Humans , Female , Chromosomes, Human, 21-22 and Y , Leukemia, Myeloid, Acute , ThrombocytosisABSTRACT
We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.
Subject(s)
Chromosome Deletion , Chromosomes, Human, 21-22 and Y , DiGeorge Syndrome/genetics , Immunologic Deficiency Syndromes/genetics , Female , Humans , Infant, Newborn , Karyotyping , Male , Translocation, GeneticSubject(s)
Chromosomes, Human, 21-22 and Y , Leukemia, Myeloid/genetics , Adolescent , Adult , Aged , Child , Chromosome Aberrations , Female , Humans , Male , Middle Aged , PrognosisABSTRACT
Este estudio se diseno para conocer la frecuenccia de aparicion del cromosoma Philadelphia y otras anomalias cromosomicas em 74 pacientes adultos (40 mujeres y 34 varones) con leucemia granulocitica cronica diagnosticada en los Servicios de Hematologia del Hospital de Oncologia y del Hospital General del Centro Medico Nacional del Instituto Mexicano del Seguro Social. Todos los pacientes, excepto uno, mostraron cromosoma Philadelphia. En 20 pacientes habia, ademas, otras anormalidades cromosomicas tales como aneuploidias y poliploidias, duplicacion del cromosoma Philadelphia, deleciones y traslocaciones, todos estos marcadores en forma aislada o en combinaciones. Llama la atención que solamente en un caso no hubo cromosoma Philadelphia (1.36 por ciento), lo que contrasta con otras series de la literatura extranjera, en las que se senala 15 por ciento de ausencia de este marcador, lo que en general se acompana de peor pronosticos. No se encontro correlacion entre las anormalidades cromosomicas y el tiempo de supervivencia, en contraste con lo que ocurre en otros tipos de leucemia. La baja frecuencia de aparicion de cromosoma Philadelphia sugiere que existen factores ambientales diferentes a los que ocurren en otros paises, o bien que el diagnostico de leucemia se basa casi exclusivamente en el hallazgo de este marcador cromosomico