A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation.
We report a case of Fryns syndrome-like phenotype with chromosomal translocation. Not all such cases have chromosomal abnormalities hence we suggest that this condition is associated with genetic heterogeneity and variable clinical manifestations.
Ahmed
Atif A
AA
Department of Pathology, Tampa General Hospital, Tampa, Florida, USA.
Gilbert-Barness
Enid
E
D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002972:Cleft Palate / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006548:Hernia, Diaphragmatic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D014178:Translocation, Genetic