Mosaic embryo diagnosis correlated with abnormal 15q duplication syndrome in offspring
نویسندگان
چکیده
منابع مشابه
Duplication of medial 15q confirmed by FISH.
EDITOR—The proband was a male infant born to a 28 year old mother and 24 year old father. The parents were healthy and non-consanguineous. There was no significant family history. The pregnancy was complicated by intrauterine growth retardation. At term, birth weight was 2300 g and bilateral talipes were noted, as were a number of dysmorphic features. These included an enlarged anterior fontane...
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Childhood neurodevelopmental disorders like Angelman syndrome and autism may be the result of underlying defects in neuronal plasticity and ongoing problems with synaptic signaling. Some of these defects may be due to abnormal monoamine levels in different regions of the brain. Ube3a, a gene that causes Angelman syndrome (AS) when maternally deleted and is associated with autism when maternally...
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Obesity is not only associated with unhealthy lifestyles, but also linked to genetic predisposition. Previously, we generated an autism mouse model (patDp/+) that carries a 6.3 Mb paternal duplication homologous to the human 15q11-q13 locus. Chromosomal abnormalities in this region are known to cause autism spectrum disorder, Prader-Willi syndrome, and Angelman syndrome in humans. We found that...
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Background The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. Method Here, we use dental pulp stem cells (DPSC) from AS deletion, 15q Duplication, and neurotypical control subjects for whole transcriptome analysis. We identified 20 genes unique to ...
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Abstract Background: Mosaic form of turner syndrome that represented by two or more cell lines in an affected individual, often has limitation for detection with classical cytogenetic methods. The present study was carried out to compare the efficiency of interphase Fluorescence In Situ Hybridisation (FISH) and cytogenetic techniques in detection of mosaic form of turner syndrome. Method...
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ژورنال
عنوان ژورنال: Fertility and Sterility
سال: 2019
ISSN: 0015-0282
DOI: 10.1016/j.fertnstert.2019.07.1375