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Diana Mossop

1p36 Deletion Syndrome, rare (NIH)

Definition

1p36 deletion syndrome also known as monosomy 1p36 is a disorder of the chromosomes in which chromosome 1 loses the end part of its short arm. This disorder was first depicted during the late 90's and the early parts of 2000's. FISH testing is often required to be able to confirm a diagnosis. This condition can occur as a 'pure' case or it can occur together with other imbalances of the chromosome.

Developmental Delays

The most common features of 1p36 deletion syndrome are delays on the child's development, learning disability, inferior muscle tone, difficulty of feeding (slow sucking or swallowing; even vomiting during infancy), facial features that are highly distinct; defects on the child's vision, a slow-closing large fontanelle. Children that have this syndrome also sit up, talk and walk much later than the normal children. It has also been recorded that children who are afflicted with this syndrome develop difficulties in behavior such as outbursts on their tempers, object-throwing, they can even strike other children or adults, screaming and are also capable of inflicting self-injury (which could include striking his head on the wall or biting his own wrists).

Eye Problems caused by the Syndrome

Strabismus is a condition where the pair of eyes does not have the same focus. This usually occurs when the patient stares at an object from a distance. Other eye problems include the so-called Double vision, visual inattentiveness and even lacrimal gland defects. Other refractive errors are farsightedness, nearsightedness, presbyopia (patient is unable to maintain clear images), and astigmatism. One other eye problem is the cataract where the lens of the eyes become clouded. Fortunately, most of these disorders can be corrected with the use of contact lenses or eyeglasses.

More Serious Problems Caused by the Syndrome

The more serious forms of illnesses that could occur due to 1p36 deletion syndrome are hypothyroidism and heart defects such as DCM or dilated cardiomyopathy (enlargement of the heart); patent ductus arteriosus (newborn connecting blood vessel remains open); and tetralogy of fallot (defect of the ventricle)

Prevalence

This disorder is known to affect only 1 in 5,000-10,000 births. Most of the children with cases of 1p36 deletion syndrome did not acquire their disorders from their parents, only 3 out of 62 cases did.

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