• Chromosome rearrangements include Robertsonian and reciprocal translocations (the most common form of chromosome abnormality in humans, present in approximately 1 in 500 individuals), periand paracentric inversions, interand intra-chromosomal insertions, deletions, duplications, and complex chromosome rearrangements (CCRs). • In all cases presenting for PGD, the risk of viable abnormality sho...

Pericentric inversion has been suggested as one possible explanation for an abnormally located, human somatic cell autosomal centromere in twenty-one instances (reviewed in Jacobs et al. 1967; see also Summitt & Atnip, 1966; Nance & Engel, 1967; Schmid, 1967; and Soudek, Laxovh & AdBmek, 1968). Five of these cases involved chromosome no. 2: three were found in individuals with various abnormali...

BACKGROUND Macrocephalic or large headed sperm with multiflagella is a rare abnormality often associated with infertility. Sperm chromosomal abnormalities could be associated with this specific morphological abnormality. METHODS The cytogenetic content of large-headed sperm was assessed by dual and three-colour fluorescence in-situ hybridization in three patients carrying this specific morpho...

in the present study karyotype of mazani river buffalo was studied in comparison with those of azeri buffalo populations from iran. blood samples were taken from ten (5 males and 5 females) mazani buffaloes and thirty (15 males and 15 females) azeri buffaloes. the mazani buffaloes belong to mazendaran province and azeri buffaloes belong to west and east azerbaijan and ardebil provinces. blood l...

Early attempts to employ a genetic defence in the United States failed. Many of these cases concerned the XYY syndrome — a genetic abnormality in which men have a second Y chromosome. This syndrome was thought to be a likely target because the extra Y chromosome suggested that these men were more “male” and therefore more aggressive. However, “critiques of the methodologically questionable XYY ...

We describe an unusual case of acute promyelocytic leukemia with +der(17)t(15;17) as the additional cytogenetic abnormality and with t(15;17) defined by fluorescence in situ hybridization (FISH) using a PML/RARA dual color, dual fusion translocation probe. By performing a step-by-step, complementary approach to evaluate unusual chromosomal abnormalities, we detected RARA/PML fusion on a marker ...

A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and...

At present the pathogenesis and therapeutic effect of chronic myelomonocytic leukemia (CMML) is still not very clear. There are no specific molecular biology characteristics in it. We report a novel deletion in the Yq chromosome of a patient with CMML, as well as the treatment and prognosis, and review the relevant literature, and put forward that the Y chromosome abnormality may be involved in...

A small number of cases of Crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed Crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone marrow showed a chromosome 20 abnormality. Although chromosome 20 abno...