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Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

โœ Scribed by Nickel, Robert E. ;Pillers, De-Ann M. ;Merkens, Mark ;Magenis, R. Ellen ;Driscoll, Deborah A. ;Emanuel, Beverly S. ;Zonana, Jonathan

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
567 KB
Volume
52
Category
Article
ISSN
0148-7299

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Haploinsufficiency of TBX1, encoding a Tbox transcription factor, is largely responsible for the physical malformations in velo-cardio-facial /DiGeorge /22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whethe

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Prenatal diagnosis of the DiGeorge/velo-cardio-facial syndrome has become possible since it was recognized that this syndrome is caused by a submicroscopic deletion in chromosome 22q11. In a sporadic patient presenting a conotruncal heart defect and polyhydramnios, the del 22q11 was made prenatally