%0 Journal Article
%T Preimplantation genetic diagnosis for Donohue syndrome (Leprechaunism): case report
%A Nur Dokuzeyl¨¹l
%A Semra Kahraman
%J Journal of the Turkish-German Gynecological Association
%D 2009
%I Aves Yayincilik
%X Leprechaunism is an inherited insulin resistance syndrome,caused by homozygous or compound -heterozygous mutations in the insulin receptor gene. Preimplantation genetic diagnosis (PGD) is an early form of prenatal diagnosis. Donohue syndrome is a very rare but fatal genetic disorder .A family with four children were diagnosed with Donohue syndrome, three of them were born at term and lost around 5 months of age,and one was diagnosed by amniocentesis and terminated by abortion. By PGT we obtained a healthy baby.Our aim is to report the first case of Donohue syndrome diagnosed after performance of preimplantation genetic diagnosis (PGD) in Turkey.
%K Donohue syndrome
%K preimplantation genetic diagnosis
%K pregnancy
%U http://www.journalagent.com/z4/download_fulltext.asp?pdir=jtgga&plng=tur&un=JTGGA-82160