Linda Sorg


Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions

The gene NKX2-1, located at the segment q13 of chromosome 14 is highly expressed in the thyroid, lungs, and pituitary glands. Previous literature has shown that pathogenic variants and heterozygous deletions of NKX2-1 are associated with a complex phenotype involving choreoathetosis, respiratory problems, and hypothyroidismā€”a triad of symptoms called brain-lung-thyroid...
Read More

CDO Winter 2023 Newsletter

CDO Winter 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner and Ask the Doctor. Additionally, new research synopses, such as the following on 9p deletion, are detailed in each issue – 9p deletion syndrome is a rare autosomal dominant disorder characterized by a...
Read More

Ring chromosome 7 syndrome

  Ring formation on chromosome 7 is very rare. A ring chromosome is formed when two ends of a chromosome fuse together, forming a ring structure; this can happen with or without terminal chromosomal deletions. Clinical manifestations of ring chromosome 7 syndrome, r(7), include growth and developmental delay, speech delay,...
Read More
1 2 3 24

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 *
Additional Note