SCIENTIFIC BACKGROUND

1p36

Category:

Scientific background

Microdeletion 1p36 is probably the most common terminal microdeletion occurring with a frequency of 1:5,000 to 1:10,000. It causes 1p36 microdeletion syndrome also known as monosomy 1p36 syndrome. Most patients have a moderate to severe developmental disorder with severe impairment of expressive speech, muscle hypotonia, and growth retardation. External features include: a large anterior fontanel that closes late, deep-set eyes, horizontal eyebrows, broad nasal root, hypoplastic midface, low-set dysplastic ears, very pointed chin, brachydactyly and camptodactyly, and short feet. Obesity and hyperphagia are described in some patients. Congenital heart defects are present in about 70% and noncompaction cardiomyopathy in 23%. Almost all patients present with abnormal ECG, and nearly half also have seizures. Visual and hearing disturbances are also present in more than half of the patients.

 

Microdeletion 1p36 is usually detected by subtelomeric diagnosis or increasingly by chromosomal microarray; in individual cases, it can be diagnosed by light microscopy using a high-resolution banding technique (between 600 and 800 bands) in chromosomal analysis.

 

References

D’Angelo et al. 2010, Am J Med Genet 152A:102 / Battaglia 2005, Brain Dev 27:358 / Slavotinek et al. 1999, J Med Genet 36:657 / Shapira et al. 1997, Am J Hum Genet 61:642

GENES

1p36
How to order

LATEST ARTICLES

Duchenne muscular dystrophy, a rare inherited muscle disorder characterized by progressive muscle weakness and degeneration that leads to difficultie...

Read more

May 12 is International Nurses Day. It is celebrated on Florence Nightingale’s birthday. She pioneered the field of modern nursing through her dedi...

Read more

Hair loss is a common problem that affects millions of men and women around the world. While genetics is believed to be the most significant factor c...

Read more

Depression is a serious mental health issue affecting over 280 million people worldwide. Recent research has revealed a potential link between gut he...

Read more

If you are unlucky enough to suffer from migraines, you will know that a migraine is not just a bad headache. The headache and accompanying symptoms ...

Read more

Autism spectrum disorder (ASD) is a neurological developmental disorder that affects brain development and function. This affects how people learn, b...

Read more

Researchers have developed a method called "Mendelian Phenotype Search Engine" (MPSE) to identify which sick infants in the neonatal intensive care u...

Read more

Did you know that wisdom teeth are actually an evolutionary leftover from our ancient ancestors that no longer serve their original purpose? These mo...

Read more

Azoospermia is a medical condition characterized by the absence of sperm in the ejaculate and is a major cause of male infertility. It affects 1 in 1...

Read more

Science has traditionally been a male dominated subject; however, women have also been hard at work in this field for decades. We put together this i...

Read more