Are there any treatments or cures for DiGeorge syndrome?

Although there is no cure for DiGeorge syndrome (22q11. 2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. Other health issues and developmental, mental health or behavioral problems can be addressed or monitored as needed.

Can you live with monosomy 21?

Full monosomy 21 is probably not compatible with life.

What kind of medical assistance is needed for Wolf-Hirschhorn syndrome?

All patients benefit from comprehensive developmental and rehabilitation support including: feeding therapy, assistive communication, speech, physical therapy, occupational therapy, and school support. Genetic counseling is recommended for families of children with Wolf-Hirschhorn syndrome.

How is chromosome 21q deletion syndrome diagnosed?

Chromosome 21q Deletion Syndrome is diagnosed on the basis of the following information: Complete physical examination and thorough medical history evaluation, including family medical history

Can a 21q22 deletion happen again?

In this case, the deletion does not usually include band 21q22 (Roland 1990; Chettouh 1995; Wakui 2002; U). Can it happen again? Where both parents have normal chromosomes, it is unlikely that another child will be born with a 21q deletion. Where a parent has a rearrangement of their chromosomes, the risk of having another affected child is higher.

What happens to the brain of a child with 21q deletion?

Another feature of brain development that is sometimes seen in children with a 21q deletion is thinning or absence of the corpus callosum, the broad band of nerve fibres that links the two sides of the brain (Theodoropoulos 1995).

How many members of unique have a 21q deletion?

When this leaflet was written, Unique had 29 members with this chromosome disorder, of whom 12 had a pure 21q deletion with no other chromosome involved. Seven families completed a detailed questionnaire in 2005. Unique is extremely grateful to the families who completed the questionnaire. 21q deletions