OBJECTIVE: An association between anterior glottic webs and velocardiofacial syndrome (chromosome 22q11.2 deletion) has previously been noted in a number of case reports. Our objective was to determine if the presence of such webs warrants a high index of suspicion for this chromosome deletion. Study design and setting This study was carried out in the Division of Pediatric Otolaryngology-Head and Neck Surgery at Cincinnati Children's Hospital Medical Center. Chromosome 22q11.2 deletion status was determined for all patients endoscopically diagnosed with anterior glottic webs between July 1998 and December 2000. Families of patients who tested positive for the deletion were referred to the Cincinnati Children's Division of Human Genetics for additional evaluation and counseling. RESULTS: Eleven of 17 patients (65%) with anterior glottic webs were positive for chromosome 22q11.2 deletion. Of these 11 patients, 5 showed subtle clinical manifestations of velocardiofacial syndrome and underwent genetic testing due only to the presence of a web. All 11 patients were diagnosed with velocardiofacial syndrome. CONCLUSION: We strongly recommend that all patients diagnosed with anterior glottic webs undergo fluorescence in situ hybridization evaluation for this chromosome deletion.
OBJECTIVE: An association between anterior glottic webs and velocardiofacial syndrome (chromosome 22q11.2 deletion) has previously been noted in a number of case reports. Our objective was to determine if the presence of such webs warrants a high index of suspicion for this chromosome deletion. Study design and setting This study was carried out in the Division of Pediatric Otolaryngology-Head and Neck Surgery at Cincinnati Children's Hospital Medical Center. Chromosome 22q11.2 deletion status was determined for all patients endoscopically diagnosed with anterior glottic webs between July 1998 and December 2000. Families of patients who tested positive for the deletion were referred to the Cincinnati Children's Division of Human Genetics for additional evaluation and counseling. RESULTS: Eleven of 17 patients (65%) with anterior glottic webs were positive for chromosome 22q11.2 deletion. Of these 11 patients, 5 showed subtle clinical manifestations of velocardiofacial syndrome and underwent genetic testing due only to the presence of a web. All 11 patients were diagnosed with velocardiofacial syndrome. CONCLUSION: We strongly recommend that all patients diagnosed with anterior glottic webs undergo fluorescence in situ hybridization evaluation for this chromosome deletion.
Authors: Reham Alharatani; Athina Ververi; Ana Beleza-Meireles; Weizhen Ji; Emily Mis; Quinten T Patterson; John N Griffin; Nabina Bhujel; Caitlin A Chang; Abhijit Dixit; Monica Konstantino; Christopher Healy; Sumayyah Hannan; Natsuko Neo; Alex Cash; Dong Li; Elizabeth Bhoj; Elaine H Zackai; Ruth Cleaver; Diana Baralle; Meriel McEntagart; Ruth Newbury-Ecob; Richard Scott; Jane A Hurst; Ping Yee Billie Au; Marie Therese Hosey; Mustafa Khokha; Denise K Marciano; Saquib A Lakhani; Karen J Liu Journal: Hum Mol Genet Date: 2020-07-21 Impact factor: 6.150