Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)
2001 | journal article. A publication with affiliation to the University of Göttingen.
Jump to: Cite & Linked | Documents & Media | Details | Version history
Cite this publication
Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26)
Reinehr, T.; Jauch, A.; Zoll, B.; Engel, U.; Bartels, I. & Andler, W. (2001)
AMERICAN JOURNAL OF MEDICAL GENETICS, 102(1) pp. 81-85. DOI: https://doi.org/10.1002/1096-8628(20010722)102:1<81::AID-AJMG1375>3.0.CO;2-V
Documents & Media
Details
- Authors
- Reinehr, Thomas; Jauch, A.; Zoll, Barbara; Engel, Ulrike; Bartels, I.; Andler, W.
- Abstract
- 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 daugther, additional chromosome material was detected in the pseudoautosomal region of one X chromosome (46,X,add (Xp.22.3)) by chromosome banding analysis. The elongation of the X chromosome consisted of Giemsa dark and bright bands 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 daughter and mother, fluorescence in situ hybridization (FISH), together with data from G banding, identified the breakpoints in Xp22.1-3 and Xq26, resulting in a partial trisomy of the terminal region of Xq (Xq26-qter) and a monosomy of the pseudoautosomal region (Xp22.3) with the SHOX gene and the proximal region Xp22.1-3, including the steroidsulfatase gene (STS) and the Kallmann 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+, cos9++). In daughter and mother, the monosomy of region Xp22.1-3 is compatible with fertility and does not cause any other somatic stigmata of the Turner syndrome or Leri-Weill syndrome, except for short stature due to monosomy of the SHOX gene. (C) 2001 Wiley-Liss, Inc. (C) 2001Wiley-Liss, Inc.
- Issue Date
- 2001
- Status
- published
- Publisher
- Wiley-liss
- Journal
- AMERICAN JOURNAL OF MEDICAL GENETICS
- ISSN
- 0148-7299