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Isochromosome (18q) in siblings.

G Krüger1, J Götz, H Dunker

  • 1Division of Neonatology and Clinical Genetics, Wilhelm-Pieck University, Rostock, GDR.

Clinical Genetics
|October 1, 1987
PubMed
Summary

This report details a rare familial occurrence of isochromosome (18q), a genetic condition, identified in both a newborn and a fetus. The diagnosis was confirmed through amniocentesis during prenatal testing.

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Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Human Biology

Background:

  • Isochromosome (18q) is a rare chromosomal abnormality.
  • Familial occurrences of chromosomal abnormalities can indicate inherited predispositions.
  • Prenatal diagnosis is crucial for identifying genetic conditions during pregnancy.

Purpose of the Study:

  • To report a case of familial isochromosome (18q).
  • To highlight the importance of genetic counseling in families with chromosomal abnormalities.
  • To document the prenatal diagnosis of isochromosome (18q) via amniocentesis.

Main Methods:

  • Karyotyping of fetal cells obtained through amniocentesis.
  • Karyotyping of the newborn infant's cells.
  • Genetic analysis to confirm the familial nature of the isochromosome (18q).

Main Results:

  • Isochromosome (18q) was identified in a fetus at 24 weeks gestation.
  • The same genetic abnormality was found in a newborn infant from the same family.
  • The findings suggest a familial inheritance pattern for this specific chromosomal anomaly.

Conclusions:

  • Familial isochromosome (18q) can occur and be detected prenatally.
  • Amniocentesis is an effective method for diagnosing chromosomal abnormalities like isochromosome (18q).
  • Genetic evaluation is recommended for families with recurrent chromosomal abnormalities.

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