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

  • 1Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.
  • 2Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea.


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.


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

MeSH Terms

Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 13
Congenital Abnormalities
Hirschsprung Disease
Infant, Newborn
Intellectual Disability
Microsatellite Repeats
Polymethacrylic Acids
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 13
Polymethacrylic Acids


  • Fig. 1 Severe ileus and obstruction of barium as observed in the colon radiograph.

  • Fig. 2 Partial karyotype of the patient at the 550-band level revealing 13q deletion: 46,XY, del(13)(q21.3q31).

  • Fig. 3 Partial karyotype and idiogram of the normal and deleted chromosome 13.

  • Fig. 4 Short-tandem repeat profiles of the patient (A) and the parents: the father (B) and the mother (C). At the peak of D13S317, the patient shows a single 11-repeat allele, the mother shows 2 peaks for 11- and 12-repeat alleles, and the father shows a single 11-repeat allele. The height of the peaks was 162 for the patient, 139 (11-repeat) and 108 (12-repeat) for the mother, and 299 for the father. If the patient is homozygous for 11-repeat alleles, the peak should normally appear higher. Therefore, we interpreted that the patient had a deletion of chromosome 13.


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