Chromosome 16p12.2-p11.2 Deletion Syndrome, 7.1- To 8.7-mb

Description

The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia et al., 2009).The pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement (Ballif et al., 2007). There are several phenotypes associated with variation in this region: see {611913} for a deletion or duplication at 16p11.2 associated with autism; see {136570} for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see {613444} for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay.Battaglia et al. (2009) emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see {611913}) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype.

Clinical Features

Top most frequent phenotypes and symptoms related to Chromosome 16p12.2-p11.2 Deletion Syndrome, 7.1- To 8.7-mb

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment
• Growth delay
• Micrognathia
• Strabismus
• Motor delay
• Muscular hypotonia

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