PMC149368_01
Sonographic appearance of fetal genitalia. Note the irregular distal portion of fetal penis and undescended testes.
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F1
Examination of the fetal anatomy revealed a deformity of the right lower limb and undescended testes with an irregular distal penis (Figure 1,2).
Note the deletion of short arm of the chromosome 4
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F4
The baby had prominent glabella, short philtrum, low-set ears, hypospadias, undescended testes and calcaneovalgus deformity of the right foot (Figure 3).
Photograph of the neonate with the Wolf-Hirschhorn syndrome. Note the hypospadias and calcaneovalgus deformity of the foot.
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F3
The karyotype analysis revealed a deletion of the short arm of chromosome 4, [46,XY,del(4)(p14)] (Figure 4).
Fluorescent in situ hybridization. Chromosome 4 is green and the other chromosomes are blue. Neither of the chromosome 4 do not carry an extra piece of DNA.
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F5
A FISH study to confirm the terminal deletion revealed a partial monosomy for 4p 15.2 4pter (Figure 5).