Results 11 to 20 of about 224,806 (164)
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Neurobiology of Disease, 2010 A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various forms of stereotyped deletions and duplication events that cause a group of neurodevelopmental disorders that are associated with autism or autism spectrum disorders
Amber Hogart +3 more
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Genetics in Medicine Open, 2023 Purpose: Structural mosaicism has been previously implicated in developmental disorders. We aimed to identify rare mosaic chromosomal alterations (MCAs) in probands with severe undiagnosed developmental disorders.
Ruth Y. Eberhardt +4 more
doaj +1 more source
The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022 [PDF]
Iranian Journal of Medical SciencesBackground: Efforts to improve prenatal diagnosis of Down syndrome have been made, with amniocentesis representing an invasive procedure, and maternal serum biochemical markers are among the non-invasive options.
Maryam Kasraeian +7 more
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Nature Communications, 2022 Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.
Elsa Leitão +36 more
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Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders
Molecular Therapy: Methods & Clinical Development, 2020 Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis +12 more
doaj +1 more source
On the mechanisms of the occurrence of autism spectrum disorders: a family case report
Аутизм и нарушение развития, 2020 Currently, more than 1000 genes described in which mutations are observed in autism spectrum disorders. Neurobiological predictors have been found to presume these abnormalities in early postnatal ontogenesis.
S.A. Tyushkevich +5 more
doaj +1 more source
iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes
PLoS ONE, 2022 Trisomy 21, 18, and 13 are the major autosomal aneuploidy disorders in humans. They are mostly derived from chromosome non-disjunction in maternal meiosis, and the extra trisomic chromosome can cause several congenital malformations. Various genes on the
Silvia Natsuko Akutsu +6 more
doaj +2 more sources
A CASE OF DELETION OF CHROMOSOME 14q23.3 [PDF]
Euromediterranean Biomedical Journal, 2012 An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication.
Nadia Imbrigiotta
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Frontiers in Cell and Developmental Biology, 2023 Imprinting disorders are congenital diseases caused by dysregulation of genomic imprinting, affecting growth, neurocognitive development, metabolism and cancer predisposition. Overlapping clinical features are often observed among this group of diseases.
Laura Pignata +13 more
doaj +1 more source
XYY syndrome: a 13-year-old boy with tall stature [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan ...
Won Ha Jo +6 more
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