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Satellited 4q identified in amniotic fluid cells

I Miller1, G Songster, S Fontana

  • 1Molecular and Clinical Cytogenetics Laboratory, Stanford University Medical Center, California, USA.

American Journal of Medical Genetics
|January 16, 1995
PubMed
Summary

A genetic anomaly, specifically extra material on chromosome 4 (4qs), was identified in a fetus and the father. This familial chromosome 4 abnormality, involving ribosomal DNA, appears to be inherited through generations without causing disease.

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Area of Science:

  • Human Genetics
  • Cytogenetics
  • Reproductive Genetics

Background:

  • Prenatal diagnosis identified an extra chromosomal segment on the long arm of chromosome 4 (4qs) in fetal amniotic fluid.
  • The fetus exhibited no visible loss of material from chromosome 4 or evidence of a balanced rearrangement.

Purpose of the Study:

  • To investigate the origin and inheritance pattern of the extra material on chromosome 4 (4qs).
  • To determine if the observed chromosomal anomaly in the fetus was inherited and assess its potential phenotypic impact.

Main Methods:

  • Karyotyping of amniotic fluid and paternal peripheral blood.
  • Fluorescence in situ hybridization (FISH) using ribosomal DNA probes.
  • Analysis of familial inheritance through extended family studies.

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Main Results:

  • The identical 4qs chromosome was found in the father, indicating an inherited unbalanced rearrangement.
  • Ribosomal DNA was confirmed at the terminus of the 4qs chromosome in the fetus, father, and paternal grandmother.
  • The anomaly was present in phenotypically normal individuals across at least three generations.

Conclusions:

  • The satellited 4q chromosome likely resulted from a translocation event with minimal or no loss of 4q material.
  • This derivative chromosome 4 represents a familial, inherited anomaly that does not appear to cause a discernible phenotype in carriers.