A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

Daniel R. Jensen, Donna M. Martin, Stephen Gebarski, Trilochan Sahoo, Ellen K. Brundage, A. Craig Chinault, Edgar A. Otto, Moumita Chaki, Friedhelm Hildebrandt, Sau Wai Cheung, Marci M. Lesperance

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia of the corpus callosum, and hypoplasia of the cerebellar vermis. Mutation analysis of EYA1, SIX1, and SIX5, genes that underlie otofaciocervical and/or branchio-oto-renal syndrome, was negative. Pathologic diagnosis of the excised cervical sinus tracts was revised on re-examination to heterotopic salivary gland tissue. Using high resolution chromosomal microarray analysis, we identified a novel 2.52 Mb deletion at 19p13.12, which was confirmed by fluorescent in situ hybridization and demonstrated to be a de novo mutation by testing of the parents. Overall, deletions of chromosome 19p13 are rare.

Original languageEnglish (US)
Pages (from-to)396-402
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number3
DOIs
StatePublished - Mar 2009

Fingerprint

Chromosome Deletion
Branchio-Oto-Renal Syndrome
Lacrimal Apparatus
Mutation
Corpus Callosum
Strabismus
Deafness
Microarray Analysis
Salivary Glands
Fluorescence In Situ Hybridization
Pathologic Constriction
Parents
Genes
Cerebellar Vermis

Keywords

  • 19p13
  • Chromosomal microarray analysis
  • Craniofacial

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Jensen, D. R., Martin, D. M., Gebarski, S., Sahoo, T., Brundage, E. K., Chinault, A. C., ... Lesperance, M. M. (2009). A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. American Journal of Medical Genetics, Part A, 149(3), 396-402. https://doi.org/10.1002/ajmg.a.32691

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. / Jensen, Daniel R.; Martin, Donna M.; Gebarski, Stephen; Sahoo, Trilochan; Brundage, Ellen K.; Chinault, A. Craig; Otto, Edgar A.; Chaki, Moumita; Hildebrandt, Friedhelm; Cheung, Sau Wai; Lesperance, Marci M.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 3, 03.2009, p. 396-402.

Research output: Contribution to journalArticle

Jensen, DR, Martin, DM, Gebarski, S, Sahoo, T, Brundage, EK, Chinault, AC, Otto, EA, Chaki, M, Hildebrandt, F, Cheung, SW & Lesperance, MM 2009, 'A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies', American Journal of Medical Genetics, Part A, vol. 149, no. 3, pp. 396-402. https://doi.org/10.1002/ajmg.a.32691
Jensen, Daniel R. ; Martin, Donna M. ; Gebarski, Stephen ; Sahoo, Trilochan ; Brundage, Ellen K. ; Chinault, A. Craig ; Otto, Edgar A. ; Chaki, Moumita ; Hildebrandt, Friedhelm ; Cheung, Sau Wai ; Lesperance, Marci M. / A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. In: American Journal of Medical Genetics, Part A. 2009 ; Vol. 149, No. 3. pp. 396-402.
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