Chromosome 19q13.11 deletion syndrome

Definition

Chromosome 19q13.11 deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11.

Inheritance

To date, all cases of chromosome 19q13.11 deletion syndrome appear to be sporadic and diagnosed in people with no family history of the condition.

Signs and symptoms

People affected by this condition may have poor growth, severe feeding difficulties shortly after birth, developmental delay, learning disabilities, microcephaly (an unusually small head), hypospadias, and skin abnormalities.

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

• Aplasia cutis congenita(Absence of part of skin at birth)
• Cachexia(Wasting syndrome)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Delayed speech and language development(Deficiency of speech development)
• Failure to thrive(Faltering weight)
• Feeding difficulties(Feeding problems)
• Hypospadias
• Intellectual disability(Mental deficiency)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Microcephaly(Abnormally small skull)

30%-79% of people have these symptoms

• Broad columella
• Cryptorchidism(Undescended testes)
• Dry skin
• Fine hair(Fine hair shaft)
• Finger syndactyly
• High forehead
• Long face(Elongation of face)
• Nail dysplasia(Atypical nail growth)
• Recurrent respiratory infections(Frequent respiratory infections)
• Retrognathia(Receding chin)
• Sparse hair
• Sparse lateral eyebrow(Limited hair on end of eyebrow)
• Sparse or absent eyelashes
• Supernumerary nipple(Accessory nipple)
• Thin skin
• Thin vermilion border(Decreased volume of lip)
• Toe clinodactyly
• Toe syndactyly(Fused toes)
• Underdeveloped nasal alae(Underdeveloped tissue around nostril)
• Wide intermamillary distance(Wide-spaced nipples)

5%-29% of people have these symptoms

• Bifid scrotum(Cleft of scrotum)
• Cataract(Clouding of the lens of the eye)
• Congenital hip dislocation(Dislocated hip since birth)
• Febrile seizure (within the age range of 3 months to 6 years)
• Fever induced seizures
• Hearing impairment(Deafness)
• Microcornea(Cornea of eye less than 10mm in diameter)
• Single median maxillary incisor(Only one upper front tooth)
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
• Wide mouth(Broad mouth)

Diagnosis

Using array CGH, this study identified three interstitial overlapping 19q13.11 deletions, defining a minimal critical region of 2.87 Mb, associated with a clinically recognisable syndrome.

Treatment

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Chromosome 19q13.11 deletion syndrome

Chromosome 19q13.11 deletion syndrome is a rare disease.

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