Chromosomal Deletionssyndrome

Chromosomal deletions lead to a partial loss of the chromosome. They can cause severe congenital malformations and marked mental retardation. Syndromes of chromosomal deletion are rarely suspected prenatally, but can be discovered by chance during a karyotyping as a result of other causes. Postnatal diagnosis is believed by the clinical appearance and confirmed by karyotyping, if deletion is relatively large, or by other cytogenetic techniques such as fluorescence in situ…

September 3, 2018