The unbalanced translocation was a 1p36 deletion and a 3q duplication.
1p36 deletion is common, occurring in 1/5000 births. The size of the deletion can be very variable and therefore its phenotypic expression also varies widely. Typically, these terminal deletions present with growth restriction, epilepsy and dysmorphic features. Cerebral malformations are also described including polymicrogyria, leukoencephalopathy, cerebral atrophy, and ventriculomegaly. Cardiac malformations, such as patent ductus arteriosus, ventricular septal defects (VSD), and atrial septal defects (ASD) have been reported in patients with 1p36 deletion.
The 3q duplication is much less common and has most frequently been reported as a part of unbalanced translocations. Therefore, scarce data are available about the phenotype of pure 3q duplication. Features of a pure duplication can include:
Cerebral malformations such as corpus callosum agenesis, cortical dysgenesis, macro-microgyria, Dandy-Walker malformation, and vermian hypoplasia
Cardiac malformations including tetralogy of Fallot, ASD, VSD, and patent foramen ovale
Genitourinary malformations such as cryptorchidy, hypospadias, and micropenis
Renal malformations including renal cysts and hydronephrosis
Skeletal malformations such as brachydactyly, clinodactyly, and ulnar deviation of the hands
Most reciprocal translocations are unique to a family since the breakpoint can occur randomly throughout the genome. Therefore, in unbalanced translocations, it is difficult to differentiate which malformations can be ascribed to the deletion, and which to the duplication. In this case report, heart and cerebral malformations have been described in 1p36 deletion as well as in 3q duplication. Due to the lack of similar reported cases, it is difficult to ascribe each malformation seen in our patient to the particular genetic defect.
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