hrp0084fc5.5 | Endocrine Oncology/Turner | ESPE2015

Hereditary Turner Syndrome 46,X,rec(X)inv(p21q28) in Six Women and Four Generations: Estimation of Skeletal Effects of GH Treatment

Stoklasova Judith , Kaprova Jana , Trkova Marie , Nedomova Vera , Zemkova Daniela , Soucek Ondrej , Matyskova Jana , Sumnik Zdenek , Lebl Jan

Background: Terminal Xp-deletion causes a variant of Turner syndrome (TS). Several studies described the associated phenotype: gonadal function is generally preserved and short stature is the major clinical feature.Case presentation: We present a family with vertical transmission of TS affecting six women in four subsequent generations. SNP-array indicates that the chromosomal aberration in this family includes terminal Xp-deletion and terminal Xq-duplic...