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

• Choi JL
• Kim BR
• Kim JE
• Woo KS
• Kim KH
• Kim JM
• Jeong JA
• Han JY

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

MeSH Terms

Arm
Biopsy
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 13
Congenital Abnormalities
Hirschsprung Disease
Humans
Infant, Newborn
Intellectual Disability
Karyotype
Megacolon
Microsatellite Repeats
Parents
Phenotype
Polymethacrylic Acids
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 13
Polymethacrylic Acids