Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Jill K. Northup, Dena Matalon, Judy C. Hawkins, Reuben Matalon, Gopalrao V N Velagaleti

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Goldenhar syndrome, also called hemifacial microsomia or oculo-auriculo-verterbal dysplasia (OAVS) (MIM 164210), is a birth defect involving the first and second branchial arch derivatives with an incidence of 1/5000. The variable phenotype includes mostly unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar dermoid and vertebral anomalies. A genome-wide search in one family suggested linkage to a region of 10.7?cM on chromosome 14q32; however, no candidate genes have been identified. We report on a 9-month old with OAVS and a pericentric inversion of chromosome 14 which he inherited from his phenotypically normal mother. Fluorescence in-situ hybridization analysis with bacterial artificial chromosome clones from chromosome 14 showed the breakpoint on 14q maps distal to 14q21.2, thus confirming the cytogenetic breakpoints. In light of previous linkage studies mapping OAVS to 14q, we propose that the long arm breakpoint in our proband disrupted a potential candidate gene for OAVS resulting in his clinical phenotype.

Original languageEnglish (US)
Pages (from-to)185-189
Number of pages5
JournalClinical Dysmorphology
Volume19
Issue number4
DOIs
StatePublished - Oct 2010

Fingerprint

Goldenhar Syndrome
Chromosomes, Human, Pair 14
Branchial Region
External Ear
Phenotype
Bacterial Artificial Chromosomes
Dermoid Cyst
Chromosome Mapping
Fluorescence In Situ Hybridization
Cytogenetics
Genes
Arm
Clone Cells
Chromosomes
Genome
Incidence

Keywords

  • fluorescence in-situ hybridization
  • Goldenhar syndrome
  • hemifacial microsomia
  • inv(14)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. / Northup, Jill K.; Matalon, Dena; Hawkins, Judy C.; Matalon, Reuben; Velagaleti, Gopalrao V N.

In: Clinical Dysmorphology, Vol. 19, No. 4, 10.2010, p. 185-189.

Research output: Contribution to journalArticle

Northup, Jill K. ; Matalon, Dena ; Hawkins, Judy C. ; Matalon, Reuben ; Velagaleti, Gopalrao V N. / Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. In: Clinical Dysmorphology. 2010 ; Vol. 19, No. 4. pp. 185-189.
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