case_images: PMC4005634_01
case_images: GTG banded karyotype of the fetus. The karyotype revealed a apparently normal karyotype 46,XY at a resolution of 400 bands.
case_images: 1755-8166-7-26-1.jpg
case_images: PMC4005634_01_1755-8166-7-26-1.jpg
case_images: F1
case_images: 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).
case_images: Clinical features of the newborn proband. The proband was born with skull joint separation, round face, low-set and dysplastic ears.
case_images: 1755-8166-7-26-2.jpg
case_images: PMC4005634_01_1755-8166-7-26-2.jpg
case_images: F2
case_images: 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).
case_images: GTG banded karyotype of the proband. The proband indicated a possible abnormal karyotype [46,XY,?del(18)(p11.3)].
case_images: 1755-8166-7-26-3.jpg
case_images: PMC4005634_01_1755-8166-7-26-3.jpg
case_images: F3
case_images: Array-CGH analysis results of the proband. The anaylsis indicated a combined of 7q duplication and 18p deletion in the proband.
case_images: 1755-8166-7-26-4.jpg
case_images: PMC4005634_01_1755-8166-7-26-4.jpg
case_images: F4
case_images: As shown in Figure  4, a combination of 18p deletion and 7q duplication was identified in the proband by array-CGH analysis.
case_images: 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)].
case_images: 1755-8166-7-26-5.jpg
case_images: PMC4005634_01_1755-8166-7-26-5.jpg
case_images: F5
case_images: 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.