PMC8566877_01
Absence of heterozygosity was noted on chromosome 14 (80%) in cord blood from the fetus.
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F1
However, SNP array results indicated the presence of mosaic upd(14), with approximately 80% homozygosity (Figure 1).
The result of the UPDtool in parent-child triols in this case of upd(14)pat using single-nucleotide polymorphism (SNP) microarray.
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F2
The analysis results confirmed that the fetus UPD was paternally derived (Figure 2).
Photograph of the induced fetus.
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F3
The induced fetus was born with the following characteristics: high hirsute forehead, short palpebral fissures, a depressed nasal bridge, little prominent philtrum, mild puckering of the lips, retrognathia, short upper limbs, abnormal left hand with ulnar deviation, small bell-shaped thorax, widely spread nipples, distended abdomen, bowing of the tibiae and abnormal left foot, and birth weight large for gestational age (Figure 3).