1p36 Deletion Syndrome
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 aquire thier chromosome disorder from thier parents. However, a study showed that three out of sixty-two children do, and in those cases one parent has a balance rearrangement of thier 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 liveborn children. To date, more females than males have been reported.
Some common features of 1p36 are developmental delay, learning disability, hypotonia (low muscle tone), feeding difficulties, distinctive facial features, hearing loss, microcephaly, heart problems, seizures, vision defects, and a large fontanelle that is slow to close. Children with 1p36 deletion syndrome also have a problem with behavior difficulties and self-injury.
It is said that children with 1p36 deletion syndrome's long-term outlook is conditional. For the most part, it is safe to say that the children will need lifelong care, but hopefully as this syndrome is studied more, it will become easier to predict the range of adult ability that a family can expect.
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 liveborn children. To date, more females than males have been reported.
Some common features of 1p36 are developmental delay, learning disability, hypotonia (low muscle tone), feeding difficulties, distinctive facial features, hearing loss, microcephaly, heart problems, seizures, vision defects, and a large fontanelle that is slow to close. Children with 1p36 deletion syndrome also have a problem with behavior difficulties and self-injury.
It is said that children with 1p36 deletion syndrome's long-term outlook is conditional. For the most part, it is safe to say that the children will need lifelong care, but hopefully as this syndrome is studied more, it will become easier to predict the range of adult ability that a family can expect.