Lab Med Online.  2013 Apr;3(2):119-123.

A Rare Case of a de novo Proximal Deletion of 13q in a Neonate with Congenital Megacolon

Affiliations
  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea. jyhan@dau.ac.kr
  • 2Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.

Abstract

Chromosome 13q deletion syndrome, which is relatively rare, is characterized by a wide spectrum of phenotypes resulting from a partial deletion of the long arm of the chromosome 13. The main clinical features are mental retardation, developmental delay, craniofacial dysmorphism, and various congenital defects. Here, we report a de novo interstitial deletion in chromosome 13 (q21.3q31) in a neonate with congenital megacolon (Hirschsprung disease) confirmed by biopsy. A short tandem repeat analysis (D13S317) was used to compare the loci on the chromosomes of the patient and the parents, the latter representing the normal karyotype, to determine how the features of the profile peaks relate to the deletion. The clinical data were also compared with those of similar cases in previously published reports.

Keyword

Chromosome; 13q deletion syndrome; Congenital; Megacolon; Hirschsprung disease
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