Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth.
We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. Two previously reported patients with paternal UPD(7) did not present overgrowth. The discrepancy between the phenotype of this boy and the other two patients raises the question of imprinted genes or homozygotization of a disease-causing gene in paternal UPD7.
Fares
Fuad
F
Department of Molecular Genetics, Technion-Israel Institute of Technology, Haifa, Israel. fares@clalit.org.il
David
Miriam
M
Lerner
Aaron
A
Diukman
Roni
R
Lerer
Israela
I
Abeliovich
Dvorah
D
Rivlin
Joseph
J
D001835:Body Weight; D002675:Child, Preschool; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005220:Fathers; D005819:Genetic Markers; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D024182:Uniparental Disomy
D005819:Genetic Markers