total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. moreover, the clinical course and t...

Research on sex chromosome aberrations has made considerable progress. There are evidences that possession of an extra X chromosome may affect the mental health of an individual. All the male schizophrenia patients registered during the period of study, who were not under treatment, constituted the patient sample. They numbered two hundered eighty seven. A properly matched control sample of two...

Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF-PCR, CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT.

OBJECTIVE To evaluate the effect of the improvement of chromosome analysis on the cytogenetic findings of Turner syndrome (TS) patients. METHODS Retrospective study of the results of the karyotypes of 260 patients with TS, regarding banding techniques, number of cells analyzed and results of investigation of Y-chromosome sequences. According to karyotype, divided in 45,X; sex chromosome mosai...

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

objective: chromosomal aberrations are common causes of multiple anomaly syndromes. recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques. materials and methods: in this retrospective study, the incidences of chromosomal aberrations were evaluated in a six year period from 2005 to 2011 i...

OBJECTIVE To investigate how the prenatal diagnosis of a sex chromosome anomaly is first communicated to parents. DESIGN Health professionals were interviewed by telephone and the conversation was taped; parents were sent questionnaires at 1 month after diagnosis and those who responded were sent another at 6 months. PARTICIPANTS 29 health professionals who had recently informed parents tha...

A cytogenetic survey of the complete population of mentally subnormal in the North-East of Scotland has been undertaken. A register for the mentally subnormal within the region already existed, and all persons recorded, whether they resided at home or in subnormality hospitals or other institutional care, were included. The total number recorded was 3020 and of these 2770 were examined cytologi...