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- W2188234310 abstract "A blindstudywasdesigned totestthe hypothesis thatsomepersons witharelatively rarecardiac malformation, pulmonary atresiawithventriculoseptal defect(PAIVSD), havea recognisable phenotype. Fourteenpatients withcyanotic congenital heartlesions wereexaminedbydysmorphologists blindedto thetypeofcardiac malformation. Sixchildrenwerejudged tohaveasimilar craniofacial appearance; allhadPAIVSD.These children werenotoriginally considered to fall withintheclassic phenotypes ofthe DiGeorge sequence orthevelocardiofacial syndrome, bothofwhichhavebeenshown tobeassociated withdeletions of22qll. Morerecently, 22qlldeletions havebeen documented intheconotruncal anomaly facesyndromeandapparently isolated conotruncal heart defects. Anewacronym, CATCH 22syndrome(Cardiac defects, Abnormal facies, Thymichypoplasia, Cleft palate, andHypocalcaemia) hasbeensuggested toencompass this verybroad phenotypic spectrum. A preliminary molecular studywas conductedusingthe dinucleotide repeatD22S264located on chromosome22qI1.2. Allcasestested with thesubtle butrecognisable phenotype had deletions, alllacking thematernal contribution atthislocus, suggesting there maybeaparentoforigin effect." @default.
- W2188234310 created "2016-06-24" @default.
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- W2188234310 date "1994-01-01" @default.
- W2188234310 modified "2023-09-26" @default.
- W2188234310 title "Pulmonary atresia associated withmaternal 22ql1.2deletion: possible parent oforigin effect intheconotruncal anomaly face syndrome" @default.
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