1P36 Deletion Syndrome – a Rare Congenital Genetic Disorder

A recent news about Robert Horry’s 17-year old daughter who died of 1p36 deletion syndrome made people want to know what this genetic disorder is all about. What is 1p36 deletion syndrome? How is it caused? What are the various tests available to diagnose this syndrome? Are there treatments available for 1p36 deletion syndrome and if yes, are they affordable to common man? 

What is 1p36 Deletion Syndrome? 

1p36 deletion syndrome is a very rare congenital genetic disorder caused by the genetic deletion of the most distal light band of the short arm of chromosome 1. It is believed that 1 in every 5,000 to 10,000 births are diagnosed with 1p36 deletion syndrome. Why is it called 1p36? One of the largest chromosomes in our human body is chromosome 1; this constitutes nearly 8% of the total DNA present in human cells; p stands for “petite” arm of the chromosome; 36 is the location of the chromosome where it is deleted. 1p36 deletion syndrome is also referred by other names such as monosomy 1p36, chromosome 1p36 deletion syndrome, and distal monosomy 1p36. 

Characteristics of 1p36 Deletion Syndrome 

Some of the common characteristics of children affected with 1p36 deletion syndrome include: 

1. Facial features 

These children exhibit some common facial features like: 

1. Large, late-closing anterior fontanel
2. Small, pointed chin
3. Flat nasal bridge
4. Ear asymmetry
5. Small head
6. Deep-set eyes 

2. Delayed growth 

Children affected with 1p36 deletion syndrome have problems in growth. 

1. They generally have delayed growth or development; these children normally do things a bit late.
2. They would experience problems in learning words.
3. These children may find sucking or swallowing foods a bit difficult; it is common to use tube-feeding in order to ensure they get optimum nutrition. 

3. Problems in vision 

Majority of the children affected with 1p36 deletion syndrome will have problems in vision. These problems are: 

1. Double vision
2. Cataracts
3. Hypermetropia
4. Two eyes not pointing in the same direction when looking at a distant object; this condition is called strabismus.
5. Repetitive vibration of eyes, also called as jerking or jiggling eyes.
6. Refractive error problems 

4. Abnormalities in growth 

Children affected with monosomy 1p36 may experience abnormalities in growth. What are the possible growth abnormalities if affected with chromosome 1p36 deletion syndrome? 

1. Not gaining weight even if proper nutrients are provided or becoming obese.
2. Low muscle tone or hypotonia.
3. Hyperthyroidism.
4. Enlarged heart, which causes fluids to build up in the lungs.
5. The connecting blood vessel between the pulmonary artery and aorta in the fetal circulation system stays open; this is called as patent ductus aretriosus.
6. A hole in the bottom chambers of the heart causing less blood flow to the lungs.
7. Development of malignant tumors related to various types of cancers like breast cancer, ovarian cancer, prostate cancer, lung cancer, cervical cancer, etc.
8. Underdevelopment of genital areas. 

5. Problems in hearing 

It is believed that nearly 50 to 80% children affected with 1p36 deletion syndrome experience hearing problems. This occur either due to damage of the inner ear or problems in the nerve used for hearing or due to conductive hearing loss. 

6. Other complications 

It is a pity that these small children live with so much of complications; the complications don’t end here. Other complications that children affected with 1p36 deletion syndrome might exhibit or get affected with include: 

1. Behavioral problems like temper outbursts, screaming, injuring themselves, autistic behavior, etc.
2. Seizures or epilepsy
3. Mental retardation
4. Brain abnormalities like cerebral atrophy, ventricular asymmetry or ventricular enlargement, overactive reflexes in the body, etc.
5. Problems in puberty
6. Spinal deformities 

Treatments for 1p36 deletion syndrome 

Are there any treatments available for these poor children who fight against the odds day-in and day-out? Yes…what are these treatments? 

1. Surgeries to correct defects related to heart or reduce malignant tumors.
2. Teaching American Sign Language to overcome difficulties in communication.
3. Physical therapy to reach various developmental milestones like walking, sitting, standing, crawling, etc.
4. Medication to control epilepsy or seizures. 

Do you know any of your friend’s or relative’s children exhibiting these characteristic? If yes, see how best you can help them. 

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