June 2024


Waardenburg syndrome

Waardenburg syndrome is a genetic complex of symptoms first described in the 1950s and that is evident at birth. For many years each genetic syndrome was considered a complex of several defects or symptoms. It was presumed that all patients with the same syndrome would have defects in the same...
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7q21.3 Deletion

7q21.3 Deletion Deletion of the q21 segment on the long arm of chromosome 7 causes a relatively rare type of limb malformation called ectrodactyly. Ectrodactyly, also called split-hand/foot malformation (SHFM), presents when there is a failure to maintain signaling or a portion of the apical ectodermal ridge during embryogenesis1. When...
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15q26 Deletion

15q26 Deletion 15q26 is the most distal segment of the long arm of chromosome 15. Its size is ~13 Mb. This segment is subdivided into 3 sub-segments: 15q26.1, 15q26.2 and 15q26.3. Almost all deletions of 15q26 are terminal, and isolated deletions of 15q26.3 are the most common variant. Individuals with...
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