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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528


MONJAGATA, Norma et al. 45,X/46,XY. A variation of Turner Syndrome. A case report. Mem. Inst. Investig. Cienc. Salud [online]. 2017, vol.15, n.2, pp.104-107. ISSN 1812-9528.

Turner syndrome (TS) is a chromosomal disorder discovered by Dr. Henry Turner in 1938, is manifested clinically mainly by short stature, broad neck, pterigyumcolli, cubitus valgus and sexual infantilism. It has a prevalence of 1 in 1800-5000 female live births and is characterized by the total or partial absence of the second X chromosome. A great variety of presentations have been recognized due to cytogenetic techniques, the most common being the monosomy of the X chromosome (chromosomal constitution: 45,X) and the less frequent mosaicism, including marker chromosomes that correspond to fragments or the whole Y chromosome. The presence of this chromosome could confer male phenotypic characteristics to the patients. We report the case of a 14-year-old girl with a phenotype similar to Turner syndrome who presented a mosaic chromosomal constitution 45 X/46,XY. Both parents were 32-year old, nonconsanguineous; the child was brought to consultation for absence of axillary and pubic hair and absence of breast development. At the birth the patient presented ambiguous genitalia, open labia and atrophied right testicle while the left remained in the pelvis, both were extirpated at 3 and 6 months of life respectively. A review of the literature was carried out and we proposed genetic counseling appropriate to the findings in the karyotype.

Palavras-chave : Turner syndrome; mosaicism; monosomy; karyotype; phenotype.

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