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

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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.

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Abbreviations

SRY:

Sex-determining region on chromosome Y

TAS:

Telomeric associations

17-OHP:

17-Hydroxy progesterone

hCG:

Human chorionic gonadotropin

ACTH:

Adrenocorticotropic hormone

PHA:

Phytohemagglutinin

GTG:

G-banding

PCR:

Polymerase chain reaction

FISH:

Fluorescent in situ hybridization

AZF:

Azoospermia factor

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Acknowledgment

This work was supported by the Akdeniz University Scientific Projects Management Unit.

Conflict of ınterest

There is no financial relationship with the organization that sponsored the research.

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Authors and Affiliations

  1. Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Zafer Cetin, Guven Luleci & Sibel Berker-Karauzum

  2. Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Mesut Parlak & Iffet Bircan

  3. Department of Medical Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Ozden Altiok Clark

  4. Department of Pediatric Surgery, Faculty of Medicine, Akdeniz University, Antalya, Turkey

    Gungor Karaguzel

Authors
  1. Zafer Cetin
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  2. Mesut Parlak
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  3. Ozden Altiok Clark
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  4. Gungor Karaguzel
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  5. Guven Luleci
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  6. Iffet Bircan
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  7. Sibel Berker-Karauzum
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Correspondence to Sibel Berker-Karauzum.

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Cetin, Z., Parlak, M., Altiok Clark, O. et al. Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism. Eur J Pediatr 172, 1215–1219 (2013). https://doi.org/10.1007/s00431-013-2028-1

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  • DOI: https://doi.org/10.1007/s00431-013-2028-1

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