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605: Prenatal findings in cases of familial and sporadic 22q11.2 deletion syndrome

✍ Scribed by Neeta Vora; Lindsay Riedl; Laurie Demmer; Sabrina Craigo; Diana Bianchi; Jodi Hoffman

Book ID
113434630
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
82 KB
Volume
199
Category
Article
ISSN
1097-6868

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Higher frequency of uncommon 1.5–2 Mb de
Higher frequency of uncommon 1.5–2 Mb deletions found in familial cases of 22q11.2 deletion syndrome
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## Abstract Familial 22q11.2 deletions have been reported as a 6%–28% of the total affected cases of 22q11.2 microdeletion syndrome (del22q11.2). Different deletion genotypes have been described for this disorder, with a predominant 3 Mb deletion present in 90% of the cases, a less common 1.5–2 Mb

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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 show