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Seven new cases of cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case

✍ Scribed by Bawle, Erawati V.; Conard, Joan; Van Dyke, Daniel L.; Czarnecki, Paula; Driscoll, Deborah A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 50 KB
Volume: 79
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981012)79:5<406::aid-ajmg18>3.0.co;2-v

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✦ Synopsis

of Cases With Asymmetric Crying Face and del(22)(q11.2) Detected by FISH Age Case 1 9 years Case 2 4 weeks Case 3 3 years Case 4 24 years Case 5 e 3 years Case 6 2 weeks Case 7 Normal a VPI, velopalatal insufficiency. b DAOM: Depressor Anguli Oris Muscle. c VSD, ventricular septal defect. d All showed deletion (22)(q11.2)(D22S75-) by FISH. e Has an intracranial Rathke's pouch cyst.

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