19p13.12 microdeletion syndrome

Alternate names

Chromosome19p13.12 microdeletion; Del(19)(p13.12); Monosomy 19p13.12

Definition

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.

Epidemiology

It has been reported in 6 patients to date.

Cause

This interstitial microdeletion was identified by comparative genomic hybridization (CGH) microarray and its size is variable.

Signs and symptoms Facial dysmorphism includes brachycephaly, anteverted nares, and ear malformations. Cardiac defects and abnormal behavior characterized by auto- and hetero-aggressivity and hyperactivity can be observed.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Delayed speech and language development(Deficiency of speech development)
• Global developmental delay

30%-79% of people have these symptoms

• Anteverted nares(Nasal tip, upturned)
• Arrhythmia(Abnormal heart rate)
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)

NIH genetic and rare disease info

• NIH info on 19p13.12 microdeletion syndrome

19p13.12 microdeletion syndrome is a rare disease.

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