Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth.
Many patients with maternal uniparental disomy of chromosome 7 (UPD7) have been described, mainly with intrauterine and postnatal growth retardation or with Silver-Russell syndrome. In contrast, only three cases of paternal UPD7 have been reported, all associated with recessive disorders. Here, we report on the clinical and molecular data of the third patient with paternal UPD7 and cystic fibrosis. Pre- and postnatal growth were normal. These findings support the hypothesis that paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
Le Caignec
Cedric
C
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Nantes, France.
Isidor
Bertrand
B
de Pontbriand
Ulrika
U
David
Valerie
V
Audrezet
Marie-Pierre
MP
Ferec
Claude
C
David
Albert
A
D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006128:Growth; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D024182:Uniparental Disomy