Prenatal Diagnosis of Trisomy 9p in a Fetus With Bilateral Ventriculomegaly: The Diagnostic Value of Chromosomal Microarray
Pratheep Vetriveeran, Prakash Gambhir, Sandhya Bhattad
Abstract
After trisomies 21, 18, and 13, the next more commonly observed autosomal chromosome duplication syndromes is trisomy 9p. It is caused by the duplication of the short arm of chromosome 9 (9p), and it can arise de novo or via unbalanced parental translocation.
We report a case of prenatally diagnosed trisomy 9p in a 26-week-old fetus, who presented with bilateral ventriculomegaly. Chromosomal microarray analysis (CMA) revealed a de novo 38 Mb duplication involving the loci 9p24.3 to 9p13.1. Characteristic dysmorphic facial features were observed on postmortem examination.
This case highlights the role of CMA in diagnosing chromosomal abnormalities and guiding reproductive counseling, especially in cases with nonspecific sonographic findings such as ventriculomegaly.
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