Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

American Journal of Medical Genetics. Part a
R BattiniAngelo Valetto

Abstract

The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named "22q13.3 deletion syndrome." We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for "22q13.3 deletion syndrome" was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA-299D3 and RP5-925J7 probe, ...Continue Reading

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Citations

Jun 1, 2012·Balkan Journal of Medical Genetics : BJMG·S MahajanJ Singh
Jul 13, 2006·American Journal of Medical Genetics. Part a·Ying S ZouSyed M Jalal
Oct 11, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kristina Cusmano-OzogH Eugene Hoyme
Jan 19, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino Battaglia, Maria C Bonaglia

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