Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism

Çetin Z., PARLAK M., Clark O. A., KARAGÜZEL G., Luleci G., Bircan I., ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.172, no.9, pp.1215-1219, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 172 Issue: 9
  • Publication Date: 2013
  • Doi Number: 10.1007/s00431-013-2028-1
  • Journal Name: EUROPEAN JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1215-1219
  • Keywords: Mixed gonadal dysgenesis, Y;Autosome translocation, Chromosome 19, Telomeric association, Structural chromosome aberration, HUMAN DICENTRIC CHROMOSOME, ISODICENTRIC Y-CHROMOSOME, TELOMERE ASSOCIATION, CHILD, TRANSLOCATION, INSTABILITY, CENTROMERE, LEUKEMIA, DELETION, FUSION
  • Akdeniz University Affiliated: Yes

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.