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[Proximal monosomy 13].

M Geormăneanu1, C Geormăneanu

  • 1Spitalul Emilia Irza Departamentul de Genetică pediatrică, Bucarest, Roumanie.

Annales De Genetique
|January 1, 1990
PubMed
Summary

A 7-month-old female presented with multiple congenital anomalies due to a rare chromosomal rearrangement involving chromosomes 13 and 22. This condition arose from a maternal balanced translocation, highlighting inherited genetic risks.

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Area of Science:

  • Genetics
  • Human Genetics
  • Clinical Genetics

Background:

  • Congenital anomalies can arise from complex chromosomal rearrangements.
  • Maternal balanced translocations are a known risk factor for offspring aneuploidy and rearrangements.

Observation:

  • A 7-month-old female infant exhibited multiple congenital anomalies.
  • Karyotype analysis revealed a 45,XX,-13, der(22), rcp(13;22)(q12;q13) karyotype.

Findings:

  • The infant's karyotype indicated a derivative chromosome 22 resulting from a reciprocal translocation between chromosomes 13 and 22.
  • The mother was identified as a carrier of a balanced translocation t(13;22)(q12;q13).

Implications:

  • This case illustrates the potential for unbalanced rearrangements in offspring of balanced translocation carriers.
  • Understanding such chromosomal abnormalities is crucial for genetic counseling and reproductive planning.
  • Further research into the specific mechanisms of this translocation can aid in predicting recurrence risks.

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