Case Reports
[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome]
[Article in
Spanish]
Affiliations
- PMID: 1924922
Item in Clipboard
Case Reports
[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome]
[Article in
Spanish]
Rev Clin Esp.
1991 Jun.
Abstract
A 17-year-old girl was referred to us because of primary amenorrhea and features of Turner's Syndrome. The karyotype obtained from peripheral lymphocytes cultures was mos 45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12). The karyotype of fibroblasts derived from cultures of both gonads was mos 45, X/46, XYnf/47, XYnfYnf. The Y chromosome was non-fluorescent in all the examined lines. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.
Similar articles
-
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.Genet Couns. 2009;20(2):173-9. Genet Couns. 2009. PMID: 19650415
-
Laparoscopy in endocrine and genetic disorders of the gonads.Acta Endocrinol Suppl (Copenh). 1975;192:1-124. Acta Endocrinol Suppl (Copenh). 1975. PMID: 123111
-
[Cytogenetic studies in primary amenorrhea].Zentralbl Gynakol. 1975;97(11):649-55. Zentralbl Gynakol. 1975. PMID: 1189755 German.
-
Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.Am J Med Genet. 1998 Jan 6;75(1):40-4. Am J Med Genet. 1998. PMID: 9450855 Review.
-
Turner's syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review.J Matern Fetal Neonatal Med. 2011 May;24(5):668-72. doi: 10.3109/14767058.2010.520769. Epub 2010 Oct 5. J Matern Fetal Neonatal Med. 2011. PMID: 20923275 Review.
Publication types
MeSH terms
LinkOut - more resources
Medical