title: A case of del(13)(q14.2)(q31.3) associated with hypothyroidism, hypertriglyceridemia, hypercholesterolemia and total ophthalmoplegia.
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 [karyotype 46,XX,del(13) (q14.2q31.3)] which was confirmed by high-resolution microarray based comparative genomic hybridization. The described patient is unique among similar rare cases with different deletion breakpoints. It is the first case of 13q14.2q31.3 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes.
authors.affiliation: Department of Pediatrics, Gulhane Military Medical Academy, Istanbul, Turkey. barismalbora@gmail.com
authors.forename: Baris
authors.initials: B
authors.lastname: Malbora
authors.forename: Cihan
authors.initials: C
authors.lastname: Meral
authors.forename: Nihan
authors.initials: N
authors.lastname: Malbora
authors.forename: Deniz
authors.initials: D
authors.lastname: Sunnetci
authors.forename: Naci
authors.initials: N
authors.lastname: Cine
authors.forename: Hakan
authors.initials: H
authors.lastname: Savli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D055028:Comparative Genomic Hybridization / Q000379:methods; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D015228:Hypertriglyceridemia / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008297:Male; D011247:Pregnancy; D014429:Twins, Dizygotic / Q000235:genetics