Detection of 22 q11.2 hemizygous deletion by interphase FISH in a patient with features of CATCH 22 syndrome.
Indian Pediatr
;
2005 Dec; 42(12): 1236-9
Article
in English
| IMSEAR
| ID: sea-8257
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Syndrome
/
Abnormalities, Multiple
/
Chromosomes, Human, Pair 22
/
Female
/
Humans
/
Child
/
Chromosome Deletion
/
In Situ Hybridization, Fluorescence
/
Face
/
Heart Defects, Congenital
Type of study:
Diagnostic study
Language:
English
Journal:
Indian Pediatr
Year:
2005
Type:
Article
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