Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female

Yevgenia Udler, Arieh Kauschansky, Josepha Yeshaya, Jane Freedman, Uriel Barkai, Ana Tobar, Elimelech Okon, Gabrielle J. Halpern*, Mordechai Shohat, Cyril Legum

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a girl who presented at the age of 11 years with short stature. She had female external genitalia and some clinical features of Turner syndrome. At laparotomy a uterus and Fallopian tubes and small gonad-like tissue masses in the region of the Fallopian fimbria were found. The tissue masses were removed and histological examination revealed no organized testicular or ovarian morphology. Remnants of Fallopian tubes, epididymis, and clusters of Leydig cells were seen but no Sertoli cells were found. Endocrine studies showed levels of sex hormones consistent with primary gonadal failure. G-banding analysis of 16 blood lymphocytes revealed the karyotype 46,X,dicY(q11.2) in all cells. Varying proportions of X and Y centromeres in blood lymphocytes, skin fibroblasts, and in the incompletely formed Wolffian and Müllerian duct derivatives were demonstrated by FISH. Molecular studies confirmed the absence of most of the long arm of the Y chromosome and an intact short arm. The SRY gene was shown to be present, but we presume that due to the mosaicism the dose was insufficient to allow normal testicular development.

Original languageEnglish
Pages (from-to)318-323
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume102
Issue number4
DOIs
StatePublished - 1 Sep 2001

Keywords

  • Dicentric Y chromosome
  • FISH
  • Histology
  • Molecular studies
  • Mosaicism

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