By

Linda Sorg

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,...
Read More
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
14
Sep

12q21 Interstitial Deletions Review of the Literature

The segment 12q21 is relatively large (21.2 Mb) but contains only 60 genes. Such low gene density allows the evaluation of the potential role of each gene. Recently a 1.6 Mb critical region (CR) has been determined for rare 12q21 deletions’ most commonly described clinical features. Recalcati et al. reported...
Read More
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
1 2 3 22

You are donating to : Chromosome Disorder Outreach, Inc, a 501(c)(3) non-profit organization.

How much would you like to donate?
$25 $50 $100
Would you like to make regular donations? I would like to make donation(s)
How many times would you like this to recur? (including this payment) *
Name *
Last Name *
Email *
Phone
Address
Additional Note
Loading...