CGH Array and Karyotype as Complementary Tools in Prenatal Diagnosis: Prenatal Diagnosis of a 4q Derivative Chromosome from Maternal 4q;11q Translocation

Fetal and Pediatric Pathology
Cristina GonzalezFernando Cava Valenciano

Abstract

There is controversy whether chromosomal microarray (CMA) can replace karyotyping in prenatal diagnosis. Chromosomal microarray may detect more clinically significant chromosomal imbalances than karyotyping in a shorter time but does not detect inversions, triploidies or low mosaicisms. Amniocentesis was performed in the late second trimester based on ultrasound abnormalities. A CMA, obtained at 10 days, demonstrated a terminal deletion in 4q34.3-q35.2 and a duplication in 11q21-q25. The karyotype results, obtained 1 week later, showed a derivative chromosome 4 inherited from a maternal balanced 4;11 translocation. CMA and karyotype were complementary in this case, together permitting a more accurate diagnosis and genetic counseling than if only one method was used.

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Citations

Jul 2, 2019·Cytogenetic and Genome Research·Zsolt TidrenczelArtúr Beke

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