Deletions of the terminal Xp regions, including the short-stature homeobox
(SHOX) gene, were described in families with hereditary Turner syndrome and
Leri-Weill syndrome. We report on a 10-2/12-year-old girl and her 37-year-
old mother with short stature and no other phenotypic symptoms. In the daug
ther, additional chromosome material was detected in the pseudoautosomal re
gion of one X chromosome (46,X,add (Xp.22.3)) by chromosome banding analysi
s. The elongation of the X chromosome consisted of Giemsa dark and bright b
ands with a length one-fifth of the size of Xp. The karyotype of the mother
demonstrated chromosome mosaicism with three cell lines (46,X,add(X)(p22.3
) [89]; 45,X [8]; and 47,X, add(X)(p22.3), add(X)(p22.3) [2]). In both daug
hter and mother, fluorescence in situ hybridization (FISH), together with d
ata from G banding, identified the breakpoints in Xp22.1-3 and Xq26, result
ing in a partial trisomy of the terminal region of Xq (Xq26-qter) and a mon
osomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the pro
ximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Ka
llmann syndrome region. The derivative X chromosome was defined as ish.der
(X)t (X;X)(p22.1-3;q26)(yWXD2540-, F20cos-, STS-, 60C10-, 959D10-, 2771+, c
os9++). In daughter and mother, the monosomy of region Xp22.1-3 is compatib
le with fertility and does not cause any other somatic stigmata of the Turn
er syndrome or Leri-Weill syndrome, except for short stature due to monosom
y of the SHOX gene. (C) 2001 Wiley-Liss, Inc. (C) 2001Wiley-Liss, Inc.