Specimens of Hoplias malabaricus from Lagoa Carioca, an isolated lake of the Rio Doce State Park (state of Minas Gerais, Brazil), were cytogenetically studied. The diploid number was found to be constant, i.e., 2n = 42 chromosomes, although two karyotypic forms were found: karyotype A, characterized by 22M + 20SM chromosomes, observed only in a male specimen, and karyotype B, characterized by 2...

Abstract G-banded karyotyping is the most common approach for detection of genomic alterations. However, this unable to detect changes less than 5 Mb. The ability fluorescence in situ hybridization (FISH) cryptic chromosomal rearrangements exceeds resolution routine karyotype. conventional FISH targeted regions only, whereas microarray a whole-genome copy number evaluation technique with 10 20 ...

The taxonomic position of Hetrodes pupus (Tettigoniidae, Hetrodinae) was clarified by a cytogenetic study of mitotic and meiotic chromosomes, including the localization of heterochromatin by C-banding. The karyotype of this species consists of 26 acrocentric autosomes and an acrocentric X chromosome, the largest element of the karyotype (2n male=27, FN=27; sex determination system is X0 male/XX...

Abstract Study question Do testis-specific cells have a normal karyotype in regions with spermatogonia (SPG) and ongoing spermatogenesis non-mosaic Klinefelter Syndrome (KS) patients? Summary answer While SPG Sertoli (SC) 46,XY spermatogenesis, most Leydig (LC) peritubular myoid (PTMC) 47,XXY karyotype. What is known already Although the majority of KS patients azoospermic, some focal (FS) can ...

This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients (n 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n=18), testosterone pathway biosynthetic defect was the most c...

Thirty-one patients with chronic primary pure red cell aplasia (PRCA) had blood and marrow cell karyotypes performed prior to immunosuppressive treatment. Only one patient had an abnormal marrow cell karyotype, which revealed a clone of hyperdiploid cells with 47 chromosomes (47, XV, + G). His blood cell karyotype was normal. This patient had no erythroid response to prednisone and cyclophospha...

We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregn...

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...

The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly. Here, we describe our use case, methodology...