A case report of trisomy 18 in a girl with 18 years old

Introduction: Edward s syndrome or Trisomy 18 is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. This genetic condition almost results from nondisjunction during meiosis. Edward s syndrome occurs in around one in 6,000 live births and around 80 percent of those affected are females. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother s age increases. Very small number of people with this condition live till 20’s to 30’s with multiple abnormalities. Methods: The patient is a 18-year-old girl. She is the only child of her parents with non-familial marriage, and without any history of similar cases in the family. The patient had been born full-term with a natural childbirth. The mother experienced no pregnancy problems, and had a normal delivery. During puberty, the patient was found to lack a menstrual cycle and symptoms of non-development of secondary sexual traits. Therefore patient with amenorrhea symptoms went to the medical genetic laboratory of Dr. Keshavarz for genetic counseling. Karyotype analysis of peripheral blood samples was requested for this patient.Results: Cytogenetic analysis revealed trisomy 18 with trisomy in 100% of peripheral lymphocytes in the 100 cell counted. The result of FISH test also showed trisomy 18 in 300 metaphase spreads study.Conclusion: This case adds to our knowledge of the phenotypic spectrum and the natural history of trisomy 18 by adding a Reproductive disorders that, to the best of our knowledge, had not been previously described.

کلیدواژه ها:

Trisomy 18 ، Edward s syndrome ، Amenorrhea