MCID: CHR586
MIFTS: 28
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Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:
Characteristics:Orphanet epidemiological data:58
16p11.2p12.2 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases Anatomical: Ear diseases
ICD10:
32
33
Orphanet: 58
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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. |
Diseases related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:58 31 (show top 50) (show all 56)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:613604 |
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Genetic tests related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:
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MalaCards organs/tissues related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:40
Heart,
Eye
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Articles related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb:
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Search
GEO
for disease gene expression data for Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb.
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Biological processes related to Chromosome 16p12.2-P11.2 Deletion Syndrome, 7.1- to 8.7-Mb according to GeneCards Suite gene sharing:
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