29
Jun
Waardenburg syndrome
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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... Read More
22
Jun
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... Read More
22
Jun
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... Read More
