What is 1p36 Deletion Syndrome?
1p36 Deletion Syndrome which is also known as partial monosomy 1p36 syndrome is one of the microdeletion syndromes that are most commonly known. A human being must share 23 chromosomes from the mother and the father with the total of 46. The problem occurs with this condition when a tiny section of DNA is missing and results in larger complications for the affected individual and their families. The number 1 in 1p36 signifies that, it impacts chromosome number 1 which is the biggest human chromosome. The ‘p’ is intended for the short arm of the chromosome that accommodates area 36 where the lost DNA should have been found. This syndrome is considered rare that has only been known and recognized not long ago, therefore it is quite hard to distinguish just how many times it occurs. The reason for this is due to the extensive scope of disability, and some individuals with less acute symptoms remain undiagnosed. The disorder affects women twice as frequent as men and approximately occurs in one out of 5-10,000 individuals.
Symptoms of 1p36 Deletion Syndrome
A missing segment in the DNA is very strong that it could really affect the person’s development altogether and is not frequently noticed unless the infant is said to have missed the developmental and physical landmarks. These indicators that are lost or delayed contain the signs and symptoms of the syndrome. Each person with the disorder will not experience all the symptoms since there are some dissimilarity from each of them and the researchers have come to an idea that the more DNA that is lost from 1p36, the more severe or obvious these symptoms will appear.
Possible facial features may include:
- Deep set of eyes and eyebrows that appears straight
- Small head that looks wide and short
- Lengthened section from nose to mouth
- Low set of ears that are shaped abnormally and are twisted backwards
- Sunken face with a nose that is broad and flat
- Pointed chin
Aside from the prominent facial characteristics, many individuals with the syndrome develop behavioral and hearing problems. Some finds it difficult to learn things and even form simple words or phrases. Others develop weak muscle tone, seizures, respiratory problems, trouble swallowing, eye complications, metabolic problems, and genital defects.
Causes of 1p36 Deletion Syndrome
The 1p36 Deletion syndrome is caused by one or more genes that are slightly deleted on the single copy of chromosome 1. The genetic imbalance is what prompts certain symptoms. The deletions that commonly caused the disorder are really small which is referred to as microdeletions and they cannot be easily sited by a regular chromosome analysis. About 93% of diagnosed individuals with the condition are the first person in the family with the deletion. The 7% got their deletion from one of the parents. Whether hereditary or not, the syndrome is not caused by the mother’s activities on or before the pregnancy.
How is 1p36 Deletion Syndrome Treated?
There is no exact cure for 1p36 deletion syndrome and treatment for relieving symptoms is the usual available. The symptoms concerning certain organs may be helped by different specialists in those fields. If the patient is diagnosed early, the easier it is to minimize or manage these problems. Some physicians suggest behavior modification training since the other reported results is good. A number of affected individuals can participate well in social events, but some do not succeed. Some may also learn to communicate through sign and body language as training for better development. Patience, understanding, and compassion are very essential to allow the person to have a rewarding and loving relation to friends and family.
Prognosis of 1p36 Deletion Syndrome
A individual person’s prognosis with 1p36 deletion syndrome differs on how much DNA is deleted from the p36 section. A few researches now record p36 as p36.1 to p36.3. The p36.3 has the worst prognosis along with severe symptoms since this has the most quantity of DNA missing. The listed individuals also have different responses to the treatment. Some people result to a relatively good prognosis with good understanding from their caregivers and families, while others experience an early death due to significant physical problems.
Life Expectancy of 1p36 Deletion Syndrome
1p36 Deletion syndrome is still new which means that the data on the estimated lifespan is still not recorded. Some reported cases of individuals reach adulthood. The number of patients with this syndrome today that lives on will be the source of the life expectancy of patients in the future with 1p36 deletion syndrome.
Pictures of 1p36 Deletion Syndrome
Source – www.1p36dsa.org
Source – www.tulips.fluidnature.com
- Arndt, A.-K., Schafer, S., Drenckhahn, J.D., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A. A., Kalwa, H., Heinig, M., Padera, R. F., and 13 others ( 2013). Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am. J. Hum. Genet. 93: 67-77.
- Battaglia, A., Hoyme, H. E., Dallapiccola, B., Zackai, E., Hudgins, L., McDonald-McGinn, D., Bahi-Buisson, N., Romano, C., Williams, C. A., Brailey, L. L., Zuberi, S. M., Carey, J. C (2008). Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121: 404-410, 2008. Note; Erratum: Pediatrics 121: 1081 only.
- Campeau, P. M., Ah Mew, N., Cartier, L., Mackay, K. L., Shaffer, L. G., Der Kaloustian, V. M., Thomas, M. A (2008). Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am. J. Med. Genet. 146A: 3062-3069.