case_images: PMC4099144_01
case_images: G-banded karyotype. Displaying no numerical or structural karyotype deviations (46,XX).
case_images: 1755-8166-7-44-1.jpg
case_images: PMC4099144_01_1755-8166-7-44-1.jpg
case_images: F1
case_images: Karyotyping at about 550 band resolution showed the proband with a female karyotype (46,XX), without any suggestion of chromosome alteration (Figure 1).
case_images: CMA depicts genomic imbalances in chromosome 18. The microarray profile of the 18p11.32 microdeletion is represented by the bold red line and the 18q partial trisomy is represented by the bold blue line, both in mosaicism.
case_images: 1755-8166-7-44-2.jpg
case_images: PMC4099144_01_1755-8166-7-44-2.jpg
case_images: F2
case_images: CMA detected four genomic imbalances in the patient's genome, corresponding to a de novo 1.23 Mb microdeletion at 18p11.32(136,226-1,369,804)x1 [NCBI 37.3/hg19] with 30% mosaicism, a 18q partial trisomy with 40% mosaicism (Figure 2), an inherited 386.73 kbp microdeletion at 7q31.1(110,923,434-111,310,159)x1 [NCBI 37.3/hg19] and a de novo 25.72 Mb microduplication at Xp22.33p21.3(168,546-25,887,307)x3 [NCBI 37.3/hg19] (Figure 3).
case_images: CMA data of the proband with genomic imbalances in 7 and X chromosomes. Analysis showing (A) a deletion segment at 7q31.1 and (B) duplication segment at Xp22.33p21.3 from patient.
case_images: 1755-8166-7-44-3.jpg
case_images: PMC4099144_01_1755-8166-7-44-3.jpg
case_images: F3
case_images: CMA detected four genomic imbalances in the patient's genome, corresponding to a de novo 1.23 Mb microdeletion at 18p11.32(136,226-1,369,804)x1 [NCBI 37.3/hg19] with 30% mosaicism, a 18q partial trisomy with 40% mosaicism (Figure 2), an inherited 386.73 kbp microdeletion at 7q31.1(110,923,434-111,310,159)x1 [NCBI 37.3/hg19] and a de novo 25.72 Mb microduplication at Xp22.33p21.3(168,546-25,887,307)x3 [NCBI 37.3/hg19] (Figure 3).