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...

A partial molar pregnancy of diploid karyotype coexisting with live term fetus is a rare entity Most instances of partial mole are triploid and only a few eases of diploid partial moles with term delivery have been reported. Here, we report a case of partial mole concomitant with a 37-week live fetus. Postpartum karyotype of the placenta and the fetus revealed both as 46XX. Histological examina...

Centrosomes play fundamental roles in mitotic spindle organisation, chromosome segregation and maintenance of genetic stability. Recently, we have demonstrated that the tyrosine kinase inhibitor imatinib induces centrosome and chromosome aberrations in vitro. Here, we comparatively investigated the effects of imatinib and the more potent successor drug nilotinib on centrosome, mitotic spindle a...