PMC4005634_01
GTG banded karyotype of the fetus. The karyotype revealed a apparently normal karyotype 46,XY at a resolution of 400 bands.
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F1
Amniotic fluid cells were cultured in situ and their karyotypes were analyzed by using G-banding technique , the cytogenetics revealed a apparently normal karyotype 46,XY (Figure  1).
Clinical features of the newborn proband. The proband was born with skull joint separation, round face, low-set and dysplastic ears.
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F2
Notable physical features included skull joint separation, single transverse palmar crease on both hands, craniofacial dysmorphism including round face, low-set and dysplastic ears (Figure  2).
GTG banded karyotype of the proband. The proband indicated a possible abnormal karyotype [46,XY,?del(18)(p11.3)].
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F3
Array-CGH analysis results of the proband. The anaylsis indicated a combined of 7q duplication and 18p deletion in the proband.
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F4
As shown in Figure  4, a combination of 18p deletion and 7q duplication was identified in the proband by array-CGH analysis.
GTG banded karyotype of the proband's father. The karyotype of the father indicated an abnormal karyotype [46,XY, t(7;18) (q3?6; p11.2)].
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F5
With the guidance of array-based CGH results of the proband, the cytogenetic analyses revealed an abnormal karyotype [46,XY, t(7;18) (q36; p11.2)] of the proband's father (Figure  5), and a normal karyotype [46,XX] of the proband's mother.