Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.

ABSTRACT

We report an eight years female child with clinical and molecular cytogenetic findings consistent with CATCH 22 syndrome characterized by cardiac defect, typical facial dysmorphism, mental deficiency and chromosome 22 q11.2 deletion. Interphase FISH with 22q 11.2 probe demonstrated hemizygous deletion in 98.5% nuclei. Interphase FISH for diagnosis of CATCH 22 syndrome has not been reported previously from India to our knowledge.