Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

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Disease Ontology 12 DOID:0060400 OMIM 56 613604 ICD10 32 Q93.5 ICD10 via Orphanet 33 Q93.5

Orphanet 58 ORPHA261211 MedGen 41 C3150858 SNOMED-CT via HPO 68 102594003 103276001 111287006 128602000 15188001 162294008 16331000 17268007 199612005 202281000 21186006 22033007 22066006 224958001 228156007 229721007 235595009 237836003 246800008 246923005 247578003 249310005 253251006 253255002 253983005 262016004 27272007 29164008 29271008 32113001 32958008 343087000 398151007 398152000 43476002 44548000 44593008 44808001 61152003 62415009 66948001 698065002 698247007 708670007 73430006 78164000 80093006 90145001 91138005 95515009 95828007 more

OMIM : ⁵⁶ 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. (613604)

MalaCards based summary : Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb, also known as chromosome 16p12.2-p11.2 deletion syndrome, is related to 16p12.2 recurrent deletion and auditory system disease. An important gene associated with Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb is DEL16P12.1P11.2 (Chromosome 16p12.2-P11.2 Deletion Syndrome). Affiliated tissues include heart and eye, and related phenotypes are global developmental delay and chronic otitis media

Disease Ontology : ¹² A chromosomal deletion syndrome that has material basis in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.

Clinical features from OMIM:

613604

Search Clinical Trials , NIH Clinical Center for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb

Search GEO for disease gene expression data for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb.