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Subfertile couple with t(4;22)(q23;q11.2).

Małgorzata Srebniak¹, Lucyna Popowska, Angelika Wawrzkiewicz-Witkowska

¹Department of Medical Genetics, The Medical University of Silesia, Jednosci 2, 41-208 Sosnowiec, Poland. srebna@poczta.onet.pl

Journal of Applied Genetics

|August 20, 2005

Summary

A chromosomal translocation in one partner was identified as the cause of recurrent pregnancy loss. While further miscarriages are likely, the risk of offspring inheriting a viable abnormal karyotype is low.

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Area of Science:

Genetics
Reproductive Medicine
Cytogenetics

Background:

Recurrent pregnancy loss (RPL) affects couples and can stem from various factors.
Cytogenetic abnormalities, such as chromosomal translocations, are a known cause of RPL.
Idiopathic RPL necessitates thorough investigation into potential underlying genetic causes.

Purpose of the Study:

To investigate the cytogenetic profile of a couple experiencing idiopathic miscarriages.
To identify any chromosomal abnormalities contributing to their fertility issues.
To assess the reproductive risks associated with identified genetic findings.

Main Methods:

Karyotyping was performed on both partners of the couple.
Standard cytogenetic analysis was utilized to examine chromosomal structure and number.

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The karyotype of the proband was analyzed for structural rearrangements.

Main Results:

The proband was found to be a carrier of a balanced chromosomal translocation: 46,XX,t(4;22)(q23;q11.2).
The partner's karyotype was normal (46,XY).
The identified translocation in the proband is considered the likely cause of the couple's idiopathic miscarriages.

Conclusions:

The chromosomal translocation t(4;22)(q23;q11.2) in the proband is a significant factor contributing to their fertility problems and recurrent miscarriages.
The risk of future miscarriages for this couple remains high.
The probability of having offspring with a viable abnormal karyotype is low due to probable lethal imbalances.