Is 1p36 deletion syndrome life expectancy?

Is 1p36 deletion syndrome life expectancy?

The severity and nature of signs and symptoms of chromosome 1p36 deletion syndrome varies between affected individuals, so it is difficult to predict the long-term outlook for an individual child. Generally, affected individuals do survive well into adult life.

How common is chromosome deletion?

22q11 deletion syndrome is the most common human chromosomal deletion syndrome occurring in approximately 1 per 4000–6000 live births [32].

What condition is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

What is the cause of 1p36 deletion syndrome?

1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of 1p36 deletion syndrome are probably related to the loss of multiple genes in this region.

How are most deletions in chromosome 1p36 de novo?

Most deletions in chromosome 1p36 are de novo mutations. 20% of patients with 1p36 deletion syndrome inherit the disease from one parent who carries a balanced or symmetrical translocation. 1p36 deletion syndrome is usually suspected based on the signs and symptoms and confirmed by fluorescence in situ hybridization (FISH).

Can a child with 1p36 deletion get neuroblastoma?

Neuroblastoma is rare and has only been reported in a few children with 1p36 Deletion Syndrome or a chromosome rearrangement involving 1p36.

Can a child with 1p36 deletion gain weight?

Some do no gain weight well because they have difficulty sucking and swallowing, while others may not grow well even though they are eating well. Some older children with 1p36 Deletion Syndrome become overweight.

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