1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosome 1s has been lost. This chromosome disorder was first described in the late 1990's and early 2000's. The diagnosis frequently requires confirmation by FISH testing. The majority of children with 1p36 deletion syndrome did not acquire their chromosome disorder from their parents. However, a study showed that three out of sixty-two children do, and in those cases one parent has a balance rearrangement of their own chromosomes. This rearrangement risks becoming unbalanced when eggs or sperm are created.
Chromosome 1p36 deletion syndrome can also be called "monosomy 1p36". Monosomy 1p36 is considered to be one of the commonest chromosome deletion syndromes. The incidence of monosomy 1p36 has been estimated to be 1 in 5,000 to 1 in 10,000 live-born children. To date, more females than males have been reported.
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