CPN | Trisomy 5p

Trisomy 5p

(Source RareDiseases.org): Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes. These individuals have a variable phenotype depending on which chromosome is involved, the size of the duplication and whether there is loss of material from the same or another chromosome. Some affected infants may have feeding difficulties and an increased susceptibility to repeated and life-threatening respiratory infections.