t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to...

Transmission ratio distortion (TRD) is defined as a significant departure from expected Mendelian ratios of inheritance of an allele or chromosome. TRD is observed among specific regions of the mouse and human genome and is frequently associated with chromosome rearrangements such as Robertsonian (Rb) chromosomes. We intercrossed mice heterozygous for a (7.18) Rb translocation and genotyped chr...

An effort to assess and quantify genetic risks from human exposure to mutagenic chemicals is urgently needed; otherwise genetic toxicology may well lose its credibility. Genetic biomonitoring provides us with an indication of mutagenic effectiveness in human somatic cells. The populations and chemicals selected for such studies form a useful database for genetic risk-assessment studies. Extrapo...

novel and spontaneous process, giving quantitative change of genotype at A mitosis in Aspergillus nidulans, was described by BAINBRIDGE and ROPER (1966). Segregants carrying a segment of linkage group 111 in duplicate were derived from crosses of strains free of translocations to strains with an apparently non-reciprocal III-VI11 translocation. These duplication strains had reduced linear growt...

Lymph chylomicrons radiolabelled in triacylglycerol and cholesteryl ester were injected into control and Watanabe heritable-hyperlipidaemic (WHHL) rabbits. Clearance of chylomicrons was slower in heterozygote and homozygote WHHL rabbits. Slower remnant clearance in WHHL rabbits was confirmed by monitoring the clearance from plasma of preformed chylomicron remnants. Use of chylomicron-like lipid...

background: acute myeloid leukemia (aml) with translocation (3,3) is a form of aml that may present de novo or may arise from a previous myelodysplastic syndrome. it is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. a subset of patients present with hepatosplenomegaly while a few cases ha...

Hereditary hemochromatosis has an autosomal recessive inheritance pattern. The homozygous diseased state occurs in 50 of 10,000 and the heterozygous non-diseased carrier state in 1000 of 10,000 caucasians.3 The typical case has two unaffected heterozygote carrier parents. However, HH can occur in consecutive generations owing to the chance mating between an as-yet-undetected homozygote and a he...

Hb E-Saskatoon and Hb G-Coushatta are rare hemoglobin variants that are not a health problem. Herein we present a Turkish woman that was diagnosed as homozygous Hb E-Saskatoon (only the second such case reported from Turkey) and a Turkish boy diagnosed as heterozygote Hb E-Saskatoon. Additionally, 2 Turkish sisters diagnosed as heterozygote Hb G-Coushatta are presented.

OBJECTIVES The aim of the study is to assess clinical characteristics of individuals with nonsyndromic sensorineural hearing loss (NSSNHL) with genetic mutations in GJB2 and/or GJB6. We describe and compare one group with biallelic mutations against a group of heterozygote mutation carriers. METHODS A total of 350 patients between the ages of 3 months and 80 years referred to a tertiary care ...

The most significant complication of pregnancy is recurrent miscarriage. Numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects. Cytogenetic evaluation of couples with recurrent pregnancy losses is performed on the basis of G-banding technique only after other possible et...