Summary
This case report describes two family members with distal 22q11.2 microduplication, a rare chromosomal disorder with expanding clinical recognition. The index case presented as a premature neonate with early sepsis, bronchopulmonary dysplasia, patent ductus arteriosus, severe hyperbilirubinaemia requiring exchange transfusion, rickets, and bilateral sensorineural hearing loss, with subsequent findings of short stature and dysmorphic features including macrocephaly, broad forehead, epicanthus, and brachydactyly. The paper appears to contribute to the growing literature on the phenotypic spectrum of this condition through familial presentation.
UK applicability
This case report has limited direct relevance to UK farming, soil health, or food systems. It may inform neonatal screening protocols and genetic counselling services in UK paediatric practice, but falls outside Vitagri's core research focus.
Key measures
Clinical phenotype, neuroimaging findings, genetic testing results, developmental milestones, dysmorphic features
Outcomes reported
The study documents clinical presentation and phenotypic features of distal 22q11.2 microduplication across two family members, including neonatal complications and developmental abnormalities.
Topic tags
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