16p13.3 Copy Number Variation

Description

A microdeletion in this region, affecting CREBBP gene, causes Rubinstein-Taybi syndrome. Duplications of CREBBP in this region have also been reported.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:96078 Microduplication syndrome

OMIM: 613458

Prevalence: <1 / 1 000 000

Definition:

16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.

Phenotypic features: No phenotypes available for now

ORPHA:353281 Microdeletion syndrome

OMIM: 610543

Prevalence: Unknown

Definition: No definition available.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Delayed speech and language development Intellectual disability Abnormal facial shape	Cryptorchidism Abnormality of the urinary system Narrow palate Convex nasal ridge Atypical behavior Emotional lability Compulsive behaviors Abnormal repetitive mannerisms Agoraphobia Failure to thrive Obesity Abnormal heart morphology Constipation Gastroesophageal reflux Recurrent respiratory infections EEG abnormality Delayed skeletal maturation Obstructive sleep apnea Short stature Secondary microcephaly Social and occupational deterioration Low hanging columella Abnormal proximal phalanx morphology of the hand Broad distal phalanx of finger Broad hallux Talon cusp Broad thumb Reduced social responsiveness Panic attack Impulsivity Abnormal fear/anxiety-related behavior	Recurrent urinary tract infections Hypospadias Vesicoureteral reflux Hydronephrosis Otitis media Conductive hearing impairment Sensorineural hearing impairment Retinopathy Glaucoma Abnormality of refraction Hypodontia Carious teeth Dental crowding Dental malocclusion Aggressive behavior Hyperactivity Nephrolithiasis Abnormality of the posterior cranial fossa Seizure Hypotonia Absent speech Joint hypermobility Growth delay Ventricular septal defect Atrial septal defect Patent ductus arteriosus Pneumonia Chiari malformation Neoplasm Patellar dislocation Abnormality of the cervical spine Avascular necrosis of the capital femoral epiphysis Keloids Abnormality of the curvature of the vertebral column Supernumerary tooth Cardiac conduction abnormality Self-injurious behavior	Cataract Coloboma Natal tooth Pulmonic stenosis Bicuspid aortic valve Aortic valve stenosis Coarctation of aorta Asthma Cervical cord compression Intestinal malrotation Meningioma Syringomyelia Humoral immunodeficiency Cellular immunodeficiency Spinal cord tumor Vascular ring Pilomatrixoma	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
CREBBP	CREB binding lysine acetyltransferase	1387	ENSG00000005339	Q92793

Evidence

Loading citation... [PMID: 19833603]
Loading citation... [PMID: 20587603]
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