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Latest Research Articles

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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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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28
Apr

Partial Tetrasomy 6p comparable to Trisomy Distal 6p Phenotype

Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. A small supernumerary marker chromosome (sSMC) is a structurally abnormal additional chromosome that most often lacks a distinct banding pattern and is difficult to identify by conventional banding cytogenetic analysis. Approximately 70% of such chromosomes occur...
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