Tag

chromosome disorders

23
Dec

GBC3 deletion mutation and Precocious puberty in a case of Simpson–Golabi–Behmel syndrome

  GPC3 mutation/deletion and Simpson-Golbai-Behmel syndrome (SGBS). This syndrome is characterized by pre- and post- macrosomia and distinctive craniofacial features such as macrocephaly, coarse facial features, and palatal abnormalities. Mild-to-severe intellectual disability with or without structural brain anomalies are also commonly noted. Other variable findings include supernumerary nipples, diastasis recti,...
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22
Dec

CDO Winter 2022 Newsletter

Chromosome Disorder Outreach’s Winter 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Winter issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
15
Aug

CDO Summer 2022 Newsletter now available!

Chromosome Disorder Outreach’s Summer 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Summer 2022 issue here.  Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
17
Dec

CDO Fall – Winter 2021 Newsletter

Chromosome Disorder Outreach’s Fall-Winter 2021 Newsletter is now available! Each issue contains detailed and new information on rare chromosome and gene mutation disorders. The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Fall-Winter 2021 issue here....
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27
Aug

Neuropsychiatric problems and chromosome disorders

Psychiatric symptoms found in some patients with chromosome disorders. There is no doubt that genetic factors play a significant role in the origin of schizophrenia and other neuropsychiatric disorders. At the same time, only a few genes are implicated as major factors for the development of these conditions. The authors...
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