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Are all phenotypically-normal Turner syndrome fetuses mosaics?
1Genetic Institute, Department of Pathology, Meir Hospital, Sapir Medical Center, Kfar-Saba, Israel.
Prenatal Diagnosis
|September 1, 1996
Summary
Cytogenetic studies reveal that some fetuses with Turner syndrome (45,XO) may survive longer due to having an additional normal cell line. This finding impacts genetic counseling for suspected cases without malformations.
Area of Science:
- * Human genetics and cytogenetics.
- * Prenatal diagnostics and genetic counseling.
Background:
- * Turner syndrome, a condition characterized by the 45,XO karyotype, is typically associated with significant health issues.
- * Prenatal diagnosis allows for early identification of genetic abnormalities like Turner syndrome.
Observation:
- * Cytogenetic and FISH analyses were conducted on formalin-fixed tissues from four fetuses diagnosed with 45,XO Turner syndrome.
- * Three of the four fetuses were phenotypically normal, while one exhibited malformations.
Findings:
- * The three phenotypically normal 45,XO fetuses possessed an additional normal cell line, suggesting mosaicism.
- * This cellular mosaicism may contribute to their prolonged survival into the second trimester.
- * The malformed 45,XO fetus did not show mosaicism across all examined tissues.
Implications:
- * The presence of mosaicism in 45,XO Turner syndrome can influence phenotypic presentation and survival.
- * For 45,XO cases without detected malformations, considering the possibility of mosaicism is crucial.
- * Accurate genetic counseling for Turner syndrome requires careful consideration of potential mosaicism and its impact on prognosis.