What is a 9P monosomy?

9p monosomes are also called 9p minus and alfi syndrome. It is an extremely rare genetic disorder with an estimated 125 people with a condition in the US. Chromosome distortion that causes 9p monosomy concerns the ninth chromosome. People with this situation are missing part of their ninth chromosome. This deletion leads to a number of conditions and complications.

Since the condition is so rare, there are few studies. The 9P monosomy can be said that the missing parts cause a number of symptoms to occur, and that geneticists believe that the chromosome deletion is very soon in the fetal growth process and has no identifiable causes. The nose is normally flat, with torn nasal fabrics, the eyelids are folded up and the forehead can be wide. As with Down's syndrome, the character tends to be short. Mild -necked is a severe mental retardation and children with 9P monosomy are characterized as extremely friendly and trust foreigners. Unlike Down's Syndrome, children have often smaller conditionsthan normal heads called microcephaly.

other health conditions associated with 9P monosomy include microgitalia; This is very small, sometimes almost absent, as genitals appear. Sex identification in infants can be complicated. People with 9P monosomy can also have other health problems that can affect survival and longevity. Many affected conditions have congenital heart defects and some have esophagus defects. Further abnormalities of growth, location or organ development and cognitive development may be present.

The severity of the 9P monosomy significantly affects how much more care will be needed for a child with this condition. Some are able to reduce relatively normal lives, especially if cognitive damage is less and there are few structural organs defects. In serious cases, the condition may correspond to a short life and requires continuous care of parents or carers.

There are a number of groups that can help provide more information and help, including March of Dimes, a child craniophial association and a chromosome deletion.

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