19
Jul
Trisomy 4p
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Trisomy 4p Individuals with trisomy 4p have three copies of the short arm of chromosome 4 rather than the typical two. Those with trisomy 4p present with a recognizable group of features including developmental and intellectual delays, characteristic facial features, and occasionally congenital anomalies2. It should be noted that patients... Read More
19
Jul
Ring X Chromosome
Ring X Chromosome Ring X chromosome is a rare chromosomal arrangement where the long arm and short arm of a singular X chromosome are joined together. This causes the entire chromosome to be in a circular, or ring, structure rather than linear. Patients with ring X chromosome show clinical manifestations... Read More
19
Jul
19q13.11 Deletion
19q13.11 Deletion Deletions of the 19q13.11 segment are not very common, but represent a recognizable syndrome. Individuals with deletions on the long arm of chromosome 19 encompassing the q13.11 region are characterized by intellectual and developmental delays, growth restriction, ectodermal dysplasia, and certain organ malformations1. Deletions of the 19q13.11 region... Read More
19
Jul
14q32.2 Deletion Syndrome
14q32.2 Deletion Syndrome Most syndromes caused by autosomal deletions cause a complex of developmental delay and facial dysmorphism. In the context of the syndrome caused by deletion of the 14q32.2 segment is not an exception. Most individuals with deletions of this segment of chromosome 14 reveal intellectual or developmental delays,... Read More
19
Jul
2q32 Deletion (Vascular Ehlers-Danlos Syndrome)
2q32 Deletion (Vascular Ehlers-Danlos Syndrome) Deletions of 2q32 are not very common, but individuals may present with the well characterized Vascular Ehlers-Danlos Syndrome (vEDS). vEDS is caused by mutations in the COL3A1 gene, which is located within the 2q32 region1. There are several key characteristics of vEDS including vascular and... Read More
