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Related Experiment Videos

A novel Y/13 familial translocation.

M I Morris1, F W Hanson, F R Tennant

  • 1Department of Obstetrics and Gynecology, University of California, Davis, School of Medicine, Sacramento 95816.

American Journal of Obstetrics and Gynecology
|October 1, 1987
PubMed
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A novel Y/13 translocation was identified in a fetus, inherited from a father with a balanced pericentric inversion. This chromosomal abnormality was also found in a phenotypically normal sibling.

Area of Science:

  • Human genetics
  • Cytogenetics
  • Reproductive genetics

Background:

  • Amniocentesis is a prenatal diagnostic procedure used to detect chromosomal abnormalities.
  • Balanced chromosomal rearrangements, such as translocations and inversions, can be inherited and may impact reproductive outcomes.
  • The Y chromosome and chromosome 13 play critical roles in fetal development and sex determination.

Observation:

  • A novel Y/13 translocation was detected in a female fetus during amniocentesis.
  • The same Y/13 translocation was identified in the phenotypically normal father.
  • The father also exhibited a pericentric inversion on chromosome 22.

Findings:

  • The father's karyotype was determined as 46,XY,-13,+der(13)t(Y;13)(q12;p12),inv(22)(p13q12.1).

Related Experiment Videos

  • A phenotypically normal female sibling also carried the Y/13 translocation, indicating familial inheritance.
  • The translocation involved the Y chromosome at q12 and chromosome 13 at p12.

    • Implications:

    • Familial Y/13 translocations can occur without apparent phenotypic consequences in carriers.
    • Prenatal diagnosis and genetic counseling are crucial for families with chromosomal rearrangements.
    • Understanding the inheritance patterns of translocations and inversions is vital for assessing reproductive risks.