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Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome

โœ Scribed by Peters, David; Chu, Tianjiao; Yatsenko, Svetlana A.; Hendrix, Nancy; Hogge, W. Allen; Surti, Urvashi; Bunce, Kimberly; Dunkel, Mary; Shaw, Patricia; Rajkovic, Aleksandar

Book ID
119958342
Publisher
Massachusetts Medical Society
Year
2011
Tongue
English
Weight
507 KB
Volume
365
Category
Article
ISSN
0096-6762

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Prenatal diagnosis of 22q11 microdeletio
Prenatal diagnosis of 22q11 microdeletion
โœ Annie Levy-Mozziconacci; Caroline Piquet; Pierre-Christophe Heurtevin; Nicole Ph ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 36 KB ๐Ÿ‘ 2 views

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. Familial transmission accounts for about 10-20 per cent of cases and most of the parents with deletions are nearly asymptomatic. This phenotypic variab