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[Prenatal detection of crying cat syndrome due to balanced translocation in one parent]
Insights
Prenatal diagnosis of Cri du chat syndrome is possible through amniocentesis. This case highlights the genetic risk of paternal balanced translocation leading to affected offspring and pregnancy loss.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Cytogenetics
Background:
- Balanced translocations can be inherited, posing risks for offspring.
- Paternal translocation t(5;15)(p13;p11) identified as a source of Cri du chat syndrome in a family.
- Recurrent spontaneous abortions suggest potential genetic contributions.
Observation:
- A family with a history of spontaneous abortions and a child with Cri du chat syndrome.
- A phenotypically normal child inherited the balanced translocation from the father.
- Amniocentesis in the seventh pregnancy allowed for prenatal cytogenetic analysis.
Findings:
- Prenatal diagnosis of Cri du chat syndrome confirmed via amniotic fluid cell culture.
- Diagnosis was further validated by fetal blood culture.
- Investigation into the origin of amniotic cells through fetal organ tissue culture.
Implications:
- Demonstrates the utility of prenatal cytogenetic screening for balanced translocations.
- Highlights the importance of genetic counseling for families with translocation carriers.
- Emphasizes the role of amniocentesis in identifying fetal chromosomal abnormalities.
Abstract:
Prenatal detection of "Cri du chat" syndrome, as the consequence of balanced translocation 46,XY,t (5, 15) (p 13, p11) of the father, is described. A phenotipically normal child, with the same type of translocation possesed by his father was born in this family, as well as a child with "Cri du chat" syndrome. Four pregnancies were termed by spontaneous abortion. In the seventh pregnancy amniocenthesis was performed. On the basis of cell culture of amniotic fluid the diagnosis of "Cri du chat" syndrome was established. The diagnosis was confirmed by culture of peripheral blood of prematurely born foetus. Tissue cultures of some fetal organs were performed in order to find the origin of amniotic cells whose culture served for screening cytogenetic analysis.