Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 31 (3), 263-270
- https://doi.org/10.1007/bf00270856
Abstract
In a patient with a height of 1.46 m, short neck and cubitus valgus the unbalanced karyotype 46,Xdel(X)(p22) was found. The mother of the proband has the balanced karyotype 46,Xt(X;15)(p22;p1). The mother is 1.56 m tall and has a short neck and cubitus valgus too. For this reason the deletion of the Xp22 band seems to cause the short stature of Turner patients. Our proband has had 2 pregnancies which ended as abortions in the 2nd and 4th month. As Giraud et al. (1974) have shown the deletion of the dark middle bande of the short X chromosome arm induces a slight dysgenesie of the gonade.This publication has 8 references indexed in Scilit:
- [Partial deletion of the short arm of an X chromosome].1974
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- An inhertited X-autosome translocation in manAnnals of Human Genetics, 1971
- Abnormalities of human sex chromosomes. II. Turner's syndrome associated with the mosaicism 45,X-46, XX-p.1971
- [On a case of XXdc ovarian dysgenesis].1966
- Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of MalformationsJournal of Medical Genetics, 1965
- Congenital anomalies associated with gonadal aplasia; review of 55 cases.1959
- CONGENITAL ANOMALIES ASSOCIATED WITH GONADAL APLASIAPediatrics, 1959