ABCMdb

PMID: 17510919

Ochshorn Y, Rosner G, Barel D, Bronshtein M, Muller F, Yaron Y
Clinical evaluation of isolated nonvisualized fetal gallbladder.
Prenat Diagn. 2007 Aug;27(8):699-703., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Asp1152His Mutation analysis for cystic fibrosis: The mutation panel included cystic fibrosis transmembrane conductance regulator (CFTR) mutations that are common in the Israeli population, including F508del, W1282X, N1303K, G542X, and D1152H. Login to comment 52 ABCC7 p.Trp1282* The father was found to be a carrier of a cystic fibrosis mutation (W1282X), but the mother was mutation-negative. Login to comment 75 ABCC7 p.Trp1282* ABCC7 p.Asp1152His Inability to demonstrate the gallbladder on ultrasound scans may also be the result of 'technical difficulties` such as, aberrant location of the Table1-Clinicalcharacteristicsof17caseswithisolatednonvisualizedfetalgallbladder(INVFGB) Case InitialU/S scan(weeks) Subsequent scans(weeks) Subsequent findings Amniotic fluidMME* KaryotypeCFmutationanalysis Pregnancy outcome Gallbladder detectedDiagnosis 11617,19NoneNormal46,XXNormalDeliveryYesThyroidaplasia 21517NoneNormal47,XXXPaternalcarrier(W1282X)TOPYesTripleX 31517,21NoneNormal46,XXNormalDeliveryYesNormal 41517NoneNormal46,XYNormalDeliveryYesNormal 51517,20NoneNormal46,XXNormalDeliveryYesNormal 61517,21FEBAlllow46,XXFetusaffectedTOPYes (atrophic) Cysticfibrosis 71622NoneNormal46,XYPaternalcarrier(D1152H)DeliveryYesNormal 81519NoneNormal46,XYNormalDeliveryNoNormal 91517,23NoneNormal46,XYMaternalcarrier(F508)DeliveryYesNormal 101517NoneNormal46,XYNormalDeliveryYesNormal 111517NoneNormal46,XXNormalDeliveryYesNormal 121517,19,24NoneLowiALKP46,XYFetuscarrier(5T)DeliveryNoNormal 131517,22NoneHighGGTPandAMP NormaliALKP 46,XYNormalDeliveryYesNormal 141520,22SmallVSDNormal46,XXNormalDeliveryYesNormal 151518NoneNormal46,XXNormalDeliveryYesNormal 161518NoneNormal46,XXNormalDeliveryYesNormal 171524NoneNormal46,XXNormalDeliveryYesNormal *lowlevels:<1stpercentile,highlevels>99thpercentile. Login to comment