[Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome]
[Article in
French]
- PMID: 7205197
Item in Clipboard
[Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome]
[Article in
French]
J Genet Hum.
1980 Dec.
Abstract
A case of atypical Turner's syndrome with unusual karyotype is reported. The chromosome complements of the patient, studied with different banding techniques, is 45,XO/46,X,dic(X)(Xqter leads to p22::p22 leads to qter). In the literature 8 similar cases have been reported. Short stature and amenorrhea are the most constant findings. The mechanisms by which the observed chromosomal "rearrangement" can be produced are briefly discussed.
Similar articles
-
[Human isodicentric X-chromosomes].Tsitologiia. 1977 Nov;19(11):1276-8. Tsitologiia. 1977. PMID: 601863 Russian.
-
An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis.Ann Genet. 1979;22(3):143-7. Ann Genet. 1979. PMID: 316668
-
Center for Barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter).Hum Genet. 1976 Aug 30;33(3):337-40. doi: 10.1007/BF00286864. Hum Genet. 1976. PMID: 964996
-
[A second case of (de novo) paracentric inversion of the short arm of the X chromosome].Ann Genet. 1990;33(1):52-5. Ann Genet. 1990. PMID: 2195983 Review. French.
-
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.Ann Genet. 1999;42(1):41-4. Ann Genet. 1999. PMID: 10214506 Review.
Cited by
-
Telomeric association of chromosomes in B-cell lymphoid leukemia.Hum Genet. 1984;67(4):385-90. doi: 10.1007/BF00291396. Hum Genet. 1984. PMID: 6333380
Publication types
MeSH terms
LinkOut - more resources
Medical