CRP11 THE LUNGS AND THE EXTRA CHROMOSOME: UNVEILING TRISOMY 12P’S PULMONARY MANIFESTATION

Nura Hulwana Bukhari¹, Nor Diyana Ismail², Dayang Zuraini Sahadan²
¹Universiti Putra Malaysia
²Paediatric Respiratory Department, Hospital Sultan Idris Shah, Serdang, Malaysia

Introduction
Trisomy 12p is a rare chromosomal disorder with an estimated prevalence of 1 in 50,000 live births. It is typically associated with dysmorphic features, global developmental delay, and congenital anomalies, most commonly affecting the heart and brain. However, pulmonary involvement in Trisomy 12p is rarely described in the literature.

Case Report
We report a case of a 3-year-old boy, born prematurely at 32 weeks with a birth weight 1.92 kg, who presented with multiple dysmorphic features including coarse facies, protruding tongue, low-set ears, widely spaced nipples, cleft palate, short neck, and stubby digits. Whole exome sequencing confirmed Trisomy 12p with a heterozygous pathogenic 33.9 Mb duplication.

He was diagnosed with congenital left diaphragmatic hernia (CDH) with complete agenesis of the left hemidiaphragm, which was surgically corrected. He remained dependent on non-invasive ventilation (NIV), prompting respiratory referral. Bronchoscopy confirmed tracheobronchomalacia, while high-resolution CT (HRCT) of the thorax at 2.5 years of age revealed left lung hypoplasia, bilateral ground-glass opacities, and subpleural cystic lesions—findings consistent with interstitial lung disease (ILD).

Discussion/Conclusion
While Trisomy 12p is classically associated with craniofacial and neurodevelopmental abnormalities, pulmonary anomalies are rarely described. This case is novel in demonstrating a rare combination of CDH, lung hypoplasia, tracheobronchomalacia, and ILD in a single patient with Trisomy 12p. To our knowledge, such extensive pulmonary involvement has not been previously reported. Further documentation of similar cases is essential to expand the phenotypic spectrum, improve early recognition, and guide multidisciplinary care and genetic counselling.