Co-Occurrence of Urogenital Anomalies and Congenital Heart Disease in a Child With Alpha-Thalassemia Mental Retardation Syndrome Associated With Chromosome 16 Abnormalities due to Partial Monosomy 16p13.3 and Partial Trisomy 16q22.1-q24.3

Congenit Anom (Kyoto). 2025 Jan-Dec;65(1):e70033. doi: 10.1002/cga.70033.

ABSTRACT

We report the case of a 3-year-old girl with alpha-thalassemia/mental retardation linked to chromosome 16 (ATR-16) syndrome. The patient presented with hypotonia, developmental delay, and characteristic facial features including hypertelorism and a broad nasal bridge. Blood test results indicated microcytic anemia and normal iron status, suggestive of thalassemia. Genetic analysis revealed that the patient harbored a 465 kb deletion in the 16p13.3 region and a 19.4 Mb duplication in the 16q22.1-q24.3 region. The patient presented with rare complications of ATR-16 syndrome, including anal fistula, vesicoureteral reflux (VUR), and patent ductus arteriosus (PDA). Comparison of this case with previously reported patients with pure partial trisomy 16q suggested that the duplicated distal 16q region may be a critical locus associated with VUR and PDA.

PMID:41317128 | DOI:10.1002/cga.70033