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

External Ids:

OMIM 57 613604 Disease Ontology 12 DOID:0060400 ICD10 33 Q93.5 Orphanet 59 ORPHA261211

ICD10 via Orphanet 34 Q93.5 MedGen 42 C3150858 SNOMED-CT via HPO 69 262016004 253983005 66948001 27272007 32958008 253251006 103276001 15188001 343087000 95828007 95515009 253255002 21186006 708670007 128602000 22066006 246923005 80093006 246800008 44593008 162294008 229721007 29164008 62415009 44548000 43476002 228156007 247578003 91138005 398151007 398152000 224958001 199612005 22033007 32113001 90145001 16331000 235595009 698065002 61152003 249310005 237836003 111287006 73430006 102594003 44808001 698247007 78164000 29271008 17268007 202281000 more

OMIM : ⁵⁷ 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, is also known as chromosome 16p12.2-p11.2 deletion syndrome. 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 low-set ears and frontal bossing

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.