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What is chromosome 6p deletion?

Chromosome6p deletionis a chromosome abnormalitythat occurs when there is a missing copyof the genetic materiallocated on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genesare involved.

What are the different types of 6p22 deletions?

The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment.

What happens if 6p24 pter is deleted?

Deletions involving the distal part of the short arm of chromosome 6 are relatively rare. Terminal deletions of 6p24-pter have been associated with developmental delay, brain malformations (including Dandy-Walker malformation), anterior eye chamber abnormalities, hearing loss, ear abnormalities, micrognathia, and heart defects [1-6].

Does 6p22p24 deletion cause speech delay?

Although most individuals with deletions in chromosome 6p22.3-p24.3 display developmental delay, speech delay, and ASDs or other behavioral abnormalities, there is no single locus that is deleted in all patients with 6p22-p24 deletion (Figure ​(Figure3).3).

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