By

Linda Sorg

14
Mar

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...
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25
Dec

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...
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21
Sep

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,...
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