Partial trisomy 19p13.3-p13.2 linked to microcephaly, hydronephrosis, and hearing loss in first Middle East caseRare Chromosome Condition Linked to Developmental Delays

This is a case report and literature review describing a single pediatric patient with partial trisomy 19p13.3-p13.2. The authors report the first case of this duplication in the Middle East, identified through chromosomal analysis showing a 6.8 Mb copy number gain (arr [GRCh37] 19p13.3-p13.2 (260,911_7,089,557)x3). Maternal cytogenetics revealed an apparently balanced reciprocal translocation involving chromosomes 13 and 19.

The child was followed for 7 years and exhibited microcephaly, unilateral hydronephrosis, mild bilateral hearing loss, failure to thrive, and global developmental delay. No intervention, comparator, or primary outcome was specified, consistent with the descriptive nature of a case report.

The authors acknowledge the small sample size (a single case) as a limitation. No funding or conflicts of interest are reported. The report does not provide effect sizes, p-values, or adverse event data, and causality between the chromosomal abnormality and the clinical features is not formally established.

Clinically, this report adds a descriptive data point to the literature on partial trisomy 19p13.3-p13.2 and highlights the value of cytogenetic evaluation in children with multiple congenital anomalies and developmental delay. However, the findings are hypothesis-generating and should not be used to infer risk or prognosis for other patients.