Results 31 to 40 of about 18,812 (235)
Urology Annals, 2022 Background: Male infertility is the main issue that accounts for 50% of infertility in couples. There are about 25% of men suffering from nonobstructive infertility with chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome.
Jad A Degheili +3 more
doaj +1 more source
A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
Molecular Genetics & Genomic Medicine, 2021 Background The 15q11‐q13 region contains three breakpoints (BP1 to BP3), and copy number variations often occur in the region. Aims 15q11‐q13 microdeletion and microduplication are usually associated with Prader‐Willi and Angelman syndromes, respectively.
Xiuzhu Huang +9 more
doaj +1 more source
The role of behavioral phenotyping in establishing a diagnosis of pseudo-angelman syndrome
Indian Pediatrics Case Reports, 2022 Background: Behavioral phenotypes are observable patterns of behavior present in certain genetic syndromes that have distinctive social, linguistic, cognitive, and motor profiles.
Veronica Arora +4 more
doaj +1 more source
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome [PDF]
, 2016 Chromosomal abnormalities are implicated in a substantial number of human developmental syndromes, but for many such disorders little is known about the causative genes.
Joss, +32 more
core +2 more sources
Analysis of Y Chromosome Microdeletion in Indonesian Males
Makara Journal of Health Research, 2010 The aim of this study is to find out Y chromosome microdeletion in Indonesian azoospermic men. This study used the PCR method with five STS to locate deletion on three different subregions (AZFa, AZFb, and AZFc) of azoospermic men and one STS to amplify ...
Dwi Anita Suryandari +2 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The
Xinyi Wang +6 more
doaj +1 more source
11p15.4 Microdeletion Associates with Hemihypertrophy [PDF]
Case Reports in Genetics, 2018 We report a preterm female infant with intrauterine growth retardation, dysmorphic facies, missing rib, small hands and feet, and hemihypertrophy. The results of whole genome SNP microarray analysis showed approximately 77 Kb interstitial deletion of the short arm of chromosome 11 (11p15.4).
Surasak Puvabanditsin +6 more
openaire +3 more sources
Frontiers in Genetics, 2023 Deletion in the Xp22.31 region is increasingly suggested to be involved in the etiology of epilepsy. Little is known regarding the genomic and clinical delineations of X-linked epilepsy in the Chinese population or the sex-stratified difference in ...
Yi Wu +12 more
doaj +1 more source
, 2016 Semen parameters of the men without an X chromosome microdeletion and with an X chromosome microdeletion.
Ivan Hrdlička (2817583) +4 more
core +1 more source
A 15q13.3 microdeletion segregating with autism [PDF]
European Journal of Human Genetics, 2008 Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first ...
Pagnamenta AT +13 more
openaire +3 more sources