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
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Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation [PDF]
, 2015 The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases.
Federico, C +4 more
core +2 more sources
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
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
doaj +1 more source
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
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 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
doaj +1 more source
A genome-wide search for risk genes using homozygosity mapping and microarrays with 1,494 single-nucleotide polymorphisms in 22 eastern Cuban families with bipolar disorder [PDF]
, 2005 Homozygosity mapping is a very powerful method for finding rare recessive disease genes in monogenic disorders and may also be useful for locating risk genes in complex disorders, late onset disorders where parents often are not available, and for rare ...
American Psychiatric Association +21 more
core +1 more source
Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. [PDF]
, 2014 BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood.
Cantor, Rita M +5 more
core +2 more sources
Molecular Cytogenetics, 2019 Background This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant ...
Zhengyou Miao +5 more
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