Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins−Franceschetti syndrome

Sawada, Hiroshi; Kawashima, Yuki; Yamamoto, Yuko; Egi, Toru; Nagata, Ikuo; Kanzaki, Sho

doi:10.1046/j.1442-200x.2002.01546.x

Cited by 1 publication

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“…Arn et al [1993] reported a child with a 3p24 deletion, and Sawada et al [2002] reported a child with a pericentric inversion of chromosome 2 with breakpoints at p11.2 and q21. It is unknown whether or not these chromosome abnormalities were de novo.…”

Section: Discussionmentioning

confidence: 99%

Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

Stevenson

Bleyl

Maxwell

et al. 2007

American J of Med Genetics Pt A

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Treacher Collins syndrome is the prototypical mandibulofacial dysostosis syndrome, but other mandibulofacial dysostosis syndromes have been described. We report an infant with mandibulofacial dysostosis and an apparently balanced de novo 2;17 translocation. She presented with severe lower eyelid colobomas requiring skin grafting, malar and mandibular hypoplasia, bilateral microtia with external auditory canal atreasia, dysplastic ossicles, hearing loss, bilateral choanal stenosis, cleft palate without cleft lip, several oral frenula of the upper lip/gum, and micrognathia requiring tracheostomy. Her limbs were normal. Chromosome analysis at the 600-band level showed a 46,XX,t(2;17)(q24.3;q23) karyotype. Sequencing of the entire TCOF1 coding region did not show evidence of a sequence variation. High-resolution genomic microarray analysis did not identify a cryptic imbalance. FISH mapping refined the breakpoints to 2q31.1 and 17q24.3-25.1 and showed the 2q31.1 breakpoint likely affects the HOXD gene cluster.Several atypical findings and lack of an identifiable TCOF1 mutation suggest that this child has a provisionally unique mandibulofacial dysostosis syndrome. The apparently balanced de novo translocation provides candidate loci for atypical and TCOF1 mutation negative cases of Treacher Collins syndrome. Based on the agreement of our findings with one previous case of mandibulofacial dysostosis with a 2q31.1 transocation, we hypothesize that misexpression of genes in the HOXD gene cluster produced the described phenotype in this patient.

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Section: Discussionmentioning

confidence: 99%