Catalog

10p14pter deletion

No MMS code

Link to WHO Definition

10p14pter deletion – http://id.who.int/icd/entity/1577009493

10p14pter deletion (Distal monosomy 10p) is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. 10p14pter deletion encompassing the 10p13 band is associated with cardiac malformations and immune anomalies that overlap with the anomalies reported in the deletion 22q11 syndrome (DiGeorge syndrome/velocardiofacial syndrome spectrum (DGS/VCFS)).