Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single …
What are the symptoms of monosomy 9p?
Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); …
What is 9p deletion syndrome?
9p deletion syndrome. Specialty. Medical genetics. Monosomy 9p (also known as Alfi’s Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22. 2-p23).
What happens if your missing chromosome 9?
Features may affect many parts of the body and may include developmental delay , low muscle tone ( hypotonia ), distinctive facial features, heart conditions, scoliosis , and/or genital abnormalities.
What is the 9th chromosome responsible for?
Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.
Can monosomy 9p be prevented?
Unfortunately there is no cure for 9p Deletion Syndrome, but there are many therapies and medical treatments available to assist families and 9pminus individuals.
Is trisomy 9 Down syndrome?
Trisomy 9p is the fourth most common type of trisomy after trisomy 21 (Down syndrome), trisomy 18 (Edwards’s syndrome) and trisomy 13 (Patau syndrome).
What is trisomy 9p?
Trisomy 9p is a rare chromosomal disorder in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a portion of the long arm (9q) of chromosome 9.
How common is Alfis syndrome?
Alfi’s syndrome is a rare chromosomal disorder that has only affected about 250 people in the entire world.
What is the most common disorder caused by a chromosomal deletion?
22q11 deletion syndrome is the most common human chromosomal deletion syndrome occurring in approximately 1 per 4000–6000 live births .
What disease is associated with chromosome 9?
Chromosome 9, Trisomy 9p is a rare chromosomal disorder in which a portion of chromosome 9 appears three times (trisomy) rather than twice in cells of the body. The trisomy may involve a portion of the short arm (9p), the entire short arm, or the short arm and a segment of the long arm (9q).
What are chromosome 9 characteristics?
Research shows that several genes that control cell growth and division are located on chromosome 9. Many of these genes are tumor suppressors, which means they normally help prevent cells from growing and dividing in an uncontrolled way.
What does an inversion on chromosome 9 mean?
An inversion occurs when there are two breaks in one chromosome. The segment between the breakpoints flips around and reinserts back into the chromosome. Genetic material may of may not be lost as a result of the chromosome breaks.
Which of the following genetic disorders is created by a translocation between chromosome 9 and chromosome 22?
A rearrangement (translocation) of genetic material between chromosomes 9 and 22 causes a type of cancer of blood-forming cells called chronic myeloid leukemia. This slow-growing cancer leads to an overproduction of abnormal white blood cells.