Down Syndrome and Patau Syndrome in the Same Sibship: Random or Not?

Foong Eva, Hasliani Hassan, Azizah Othman, Ilunihayati Ibrahim, Nazihah Mohd Yunus, Siti Mariam Ismail, Nik Mohd Zulfikri Bin Mat Zin, Asraihan Abdul Malik, Nurul Alia Nawi, Ravindran Ankathil, Zilfalil Bin Alwi


Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.

Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.

Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.

Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.

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Recurrent Aneuploidy; Down Syndrome; Trisomy 21; Patau Syndrome; Trisomy 13

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