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?

The 9p deletion syndrome is characterized by trigonocephaly, moderate to severe mental retardation, low-set, malformed ears, and dysmorphic facial features, such as up-slanting palpebral fissures and a long philtrum.

How many people have monosomy 9p?

9p Deletion Syndrome is a very rare chromosome abnormality that reportedly occurs in 1 in 50,000 births. It is characterized by a portion of the ā€œpā€ (or short end of the 9th chromosome) being deleted or missing.

What causes monosomy 9p?

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, ā€œpā€, of one of the 9th Chromosomes (9p22. 2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality.

What causes monosomy?

Monosomy (the lack of one member of a chromosome pair) and trisomy (a triplet instead of the normal chromosome pair) are typically the result of nondisjunction during meiosis. When this happens, one gamete shows monosomy, and the other shows trisomy of the same chromosome.

What causes trisomy 9p?

In some cases, trisomy 9p appears to result from a balanced chromosomal rearrangement in one of the parents. In others, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).

Can Alfi’s disease be prevented?

There is no cure for this syndrome. Patients may need neurosurgery for correction of the skull defect, and rarely – heart surgery. They must be observed and treated by occupational therapists, speech therapists and psychologists.