A case of del(13)(q14.2)(q31.3) associated with hypothyroidism, hypertriglyceridemia, hypercholesterolemia and total ophthalmoplegia


Malbora B., Meral C., Malbora N., SÜNNETÇİ AKKOYUNLU D., ÇİNE N., SAVLI H.

GENE, vol.498, no.2, pp.296-299, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 498 Issue: 2
  • Publication Date: 2012
  • Doi Number: 10.1016/j.gene.2012.02.002
  • Title of Journal : GENE
  • Page Numbers: pp.296-299

Abstract

13q deletion syndrome is caused by the absence of a portion of the long arm of chromosome 13. This syndrome is a rare condition characterized by a wide range of clinical findings. Phenotype varies with the location and size of the deletion. We report a female dizygotic twin with a proximal deletion of 13q and failure to thrive, hypotonia, and multiple anomalies included pytosis and total ophthalmology at right side, strabismus at left, bilateral iris heterochromia and telecantus. She had a broad nasal bridge with flat philtrum, micrognathia and antevert ear lobes. Her umbilicus had vanished. Her left coxa was dislocated and left toes were overlapped. She was also found to have hypertriglyceridemia, hypercholesterolemia, and hypothyroidism. Chromosome analysis showed a proximal deletion of chromosome 13 [kaiyotype 46,XX,del(13) (q142q313)] which was confirmed by high-resolution microarray based comparative genomic hybridization.