Aim: The aim of this study was to determine the diagnostic utility chromosomal microarray analysis (CMA) in daily pediatric neurology practice and identify guiding clinical parameters for patients requiring test. Material Methods: CMA results 91 with global developmental delay/intellectual disability (GDD/ID) admitted our clinic various reasons between 2018 2020 were examined. Demographical dat...

BACKGROUND The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226 infertile men undergoing ICSI were tested. ...

We examined the prevalence of anti-nuclear antibodies (ANA) in 32 consecutive patients with premature ovarian failure with and without chromosomal abnormalities. Blood samples were taken for karyotype determination as well as detection of autoantibodies, X-terminal microdeletions and spontaneous follicular growth. The correlation between ANA positivity and the age at onset of amenorrhoea, as we...

We analyzed 34 azoospermic (AZ), 43 oligospermic (OS), and 40 infertile males with normal spermiogram (INS) together with 55 normal fertile males (NFM) from the Indian population. AZ showed more microdeletions in the AZFa and AZFb regions whereas oligospermic ones showed more microdeletions in the AZFc region. Frequency of the AZF partial deletions was higher in males with spermatogenic impairm...

Abstract Introduction Microdeletions of the Y-chromosome (Yq) and karyotype abnormalities are frequent causes male factor infertility. Current AUA/EUA guidelines recommend obtaining Yq microdeletion analysis, karyotype, genetic counseling in men with non-obstructive azoospermia or severe oligospermia (<5 mil/mL). A recent retrospective cohort study suggests that microdeletions primarily ...

AIM To evaluate the occurrence of classical azoospermia factor (AZF) deletions of the Y chromosome as a routine examination in azoospermic subjects with Klinefelter syndrome (KS). METHODS Blood samples were collected from 95 azoospermic subjects with KS (91 subjects had a 47,XXY karyotype and four subjects had a mosaic 47,XXY/46,XY karyotype) and a control group of 93 fertile men. The values ...

We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men ...

Keywords: chromosomal dermatoglyphics genetics infertility Polycystic ovarian syndrome PCOS Original Article Aims: To study and co-relate chromosomal abnormalities and dermatoglyphics in infertile female patients with PCOS. Method: 16 cases of PCOS and 16 normal females as controls were selected. Chromosomal study was done using whole blood culture method and GTG Banding in genetic laboratory. ...

Dear Sir, Dr Chianese et al. (2013) expressed concerns about their results reported in ‘Y-chromosome microdeletions are not associated with SHOX haploinsufficiency’ and our earlier publication ‘Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions’ (Jorgez et al., 2011). We wish to respond to several of their statements regarding our work in hopes...