PMID- 11471178
OWN - NLM
STAT- MEDLINE
DCOM- 20010823
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 102
IP  - 1
DP  - 2001 Jul 22
TI  - Short stature in a mother and daughter caused by familial 
      der(X)t(X;X)(p22.1-3;q26).
PG  - 81-5
AB  - 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.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Reinehr, T
AU  - Reinehr T
AD  - Vestische Kinderklinik, University of Witten-Herdecke, Datteln, Germany. 
      TIReinehr@aol.com
FAU - Jauch, A
AU  - Jauch A
FAU - Zoll, B
AU  - Zoll B
FAU - Engel, U
AU  - Engel U
FAU - Bartels, I
AU  - Bartels I
FAU - Andler, W
AU  - Andler W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
RN  - EC 3.1.6.1 (Arylsulfatases)
RN  - EC 3.1.6.2 (Steryl-Sulfatase)
SB  - IM
MH  - Adult
MH  - Arylsulfatases/genetics
MH  - Child
MH  - Chromosome Banding
MH  - Chromosome Painting
MH  - Family Health
MH  - Female
MH  - Growth Disorders/*genetics/pathology
MH  - Homeodomain Proteins/genetics
MH  - Humans
MH  - Karyotyping
MH  - Short Stature Homeobox Protein
MH  - Steryl-Sulfatase
MH  - Translocation, Genetic
MH  - X Chromosome/*genetics
EDAT- 2001/07/27 10:00
MHDA- 2001/08/24 10:01
CRDT- 2001/07/27 10:00
PHST- 2001/07/27 10:00 [pubmed]
PHST- 2001/08/24 10:01 [medline]
PHST- 2001/07/27 10:00 [entrez]
AID - 10.1002/1096-8628(20010722)102:1<81::AID-AJMG1375>3.0.CO;2-V [pii]
AID - 10.1002/1096-8628(20010722)102:1<81::aid-ajmg1375>3.0.co;2-v [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jul 22;102(1):81-5. doi: 
      10.1002/1096-8628(20010722)102:1<81::aid-ajmg1375>3.0.co;2-v.