BACKGROUND All over the world, chromosomal microarray (CMA) is now the first tier diagnostic assay for genetic testing to evaluate developmental delay (DD), mental retardation (MR), and autism spectrum disorder (ASD) with unknown etiology. The average diagnostic yield of the CMA test is known to be about 12.2%, while that of conventional G-banding karyotype is below 3%. This study aimed to asse...

The chromosomes of male and female individuals Enteromius callipterus [1] were assessed in this study with the objective determining diploid chromosome karyotype. samples obtained from Tahoss River, Jos Plateau, assessment was conducted using conventional Giemsa staining technique. reveals that individual E. has a number 2n = 50, fundamental autosomal arms (NFa) 82, karyotype formula 14M + 4m 3...

We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT NB, DV TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was pe...

OBJECTIVE To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil. METHODS This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. M...

Triatoma rubrofasciata (De Geer) is the first species of triatomine described, and little is known on its vector biology. Studies are restricted to starvation resistance, interspecific morphometric variability, morphometry of testis follicles, coloration of the testicular peritoneal sheath, ultrastructure of the male accessory glands, phylogeny and cytogenetics. Thus, this study aims to address...

The genus Mesoplodon (Cetacea: Odontoceti: Ziphiidae) is one of the few cetacean genera with the karyotype 2n = 42. The 2n = 42 karyotype of M. europaeus and M. carlhubbsi is largely consistent with the general cetacean karyotype 2n = 44, although other 2n = 42 karyotypes do not exhibit clear homologies with the general cetacean karyotype. Therefore, the chromosomes of Mesoplodon species may be...

STUDY QUESTION Do women with Turner karyotype have increased mortality and morbidity in the years after childbirth? SUMMARY ANSWER No mortality occurred during pregnancy and follow-up in women with Turner karyotype, but a higher rate of circulatory and endocrine diseases and a high risk of aortic aneurysm were confirmed. WHAT IS KNOWN ALREADY Pregnancies in women with Turner karyotype are h...

Chromosome counts and karyotypes of two species of Chrysolaena H. Robinson 1988 are presented in this paper. Mitotic analysis revealed that both taxa have x=10, a basic chromosome number considered characteristic of the genus. The chromosome number and the karyotype of Chrysolaena cristobaliana are reported for the first time, as well as a new cytotype and the karyotype of Chrysolaena sceptrum....

the autism spectrum disorders (asds) are common neurodevelopmental disorders estimated to affect 1 in 88 children. asd is a complex condition, result of genetic, epigenetic and environmental factors. however, genetic comopnent seems to play an important role. the loss/gain of 1kb and more nucleotides, copy number variation (cnv), is the significant genetic factor in the etiology of asd. the cnv...