Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.
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.
Halder
Ashutosh
A
Department of Reproductive Biology, Pediatrics and Cardiology, All India Institute of Medical Sciences, New Delhi 110 029, India. ashutoshhalder@yahoo.co.in
Fauzdar
Ashish
A
Kabra
Madhulika
M
Saxena
Anita
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008607:Intellectual Disability; D013577:Syndrome