Cri du Chat Syndrome Deletion
Test Background
Features of this syndrome include high pitched cry, microcephaly, characteristic facial features, impaired growth, and developmental delay. The size of the deletion may vary. There are genotype-phenotype correlations based upon the size and location of the deletion. Among patients with the clinical features of Cri du Chat syndrome, MLPA will detect a deletion in greater than 95% of cases.
Lab Method
MLPA