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Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.
- Source :
-
European journal of pediatrics [Eur J Pediatr] 2013 Sep; Vol. 172 (9), pp. 1215-9. Date of Electronic Publication: 2013 May 08. - Publication Year :
- 2013
-
Abstract
- We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right side, and (2) an immature fallopian tube, a vas deferens, and a gonad resembling a testis on the left side. Conventional cytogenetic analysis performed on cultivated peripheral blood cells, and tissue obtained from the phallus and a gonadal structure which resembled a testis revealed two different cell lines with the 46,X,tas (Y;19)(p11.3;q13.4) and 45,X karyotype. Y chromosome microdeletion analysis showed that the patient did not have any genomic deletions in the AZFa, b, c, or SRY regions on the long arm of the Y chromosome. This is the first report of a patient with mixed gonadal dysgenesis that is accompanied by a telomeric association between chromosomes 19 and Y with 45,X mosaicism.
Details
- Language :
- English
- ISSN :
- 1432-1076
- Volume :
- 172
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- European journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 23652939
- Full Text :
- https://doi.org/10.1007/s00431-013-2028-1