case_images: PMC11268518_01
case_images: Genetic lineage of the proband's family.
case_images: TACG-17-117-g0001.jpg
case_images: PMC11268518_01_TACG-17-117-g0001.jpg
case_images: f0001
case_images: Parents were not consanguineous (Figure 1).
case_images: Photograph of the face of the patient with 2p15 microdeletion syndrome - front view. Note characteristic features: broad nasal bridge, smooth philtrum, large mouth, full lips.
case_images: TACG-17-117-g0002.jpg
case_images: PMC11268518_01_TACG-17-117-g0002.jpg
case_images: f0002
case_images: Clinical features include the following: mild mental retardation, full lips, broad nasal root, very light hair, scar after right inguinal hernia operation, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap (Figures 2-5).
case_images: Photograph of the face of the patient with 2p15 microdeletion syndrome - side view. Note characteristic features: sloping forehead, full lips.
case_images: TACG-17-117-g0003.jpg
case_images: PMC11268518_01_TACG-17-117-g0003.jpg
case_images: f0003
case_images: Clinical features include the following: mild mental retardation, full lips, broad nasal root, very light hair, scar after right inguinal hernia operation, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap (Figures 2-5).
case_images: Photograph of hands of the patient with 2p15 microdeletion syndrome. Note characteristic features: long slender fingers.
case_images: TACG-17-117-g0004.jpg
case_images: PMC11268518_01_TACG-17-117-g0004.jpg
case_images: f0004
case_images: Clinical features include the following: mild mental retardation, full lips, broad nasal root, very light hair, scar after right inguinal hernia operation, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap (Figures 2-5).
case_images: Photograph of the feet of the patient with 2p15 microdeletion syndrome. Note characteristic feature: long slender toes, sandal gap.
case_images: TACG-17-117-g0005.jpg
case_images: PMC11268518_01_TACG-17-117-g0005.jpg
case_images: f0005
case_images: Clinical features include the following: mild mental retardation, full lips, broad nasal root, very light hair, scar after right inguinal hernia operation, excessively developed subcutaneous tissue, joint laxity, postural defect, flat-valgus foot with sandal gap (Figures 2-5).
case_images: Karyoview of patient's chromosomal microarray results. Note a deletion within the short arm of chromosome 2 in the 2p15 region.
case_images: TACG-17-117-g0006.jpg
case_images: PMC11268518_01_TACG-17-117-g0006.jpg
case_images: f0006
case_images: Genetic imbalance in the form of a deletion within the short arm of chromosome 2 in the 2p15 region (containing 50 kilobase pair) was found (arr[GRCh37] 2p15(61679014_61729258)x1) (Figures 6 and 7).
case_images: Patient's chromosomal microarray results showing a deletion covering XPO1 and USP34 genes (Chromosome Analysis Suite (Chas) Software).
case_images: TACG-17-117-g0007.jpg
case_images: PMC11268518_01_TACG-17-117-g0007.jpg
case_images: f0007
case_images: Genetic imbalance in the form of a deletion within the short arm of chromosome 2 in the 2p15 region (containing 50 kilobase pair) was found (arr[GRCh37] 2p15(61679014_61729258)x1) (Figures 6 and 7).
case_images: Karyoview of patient's and parents' chromosomal microarray results. Note a deletion within the 2p15 region in patient and no deletion in parents.
case_images: TACG-17-117-g0008.jpg
case_images: PMC11268518_01_TACG-17-117-g0008.jpg
case_images: f0008
case_images: Parents were not carriers of that deletion (de novo lesion) (Figures 8 and 9).
case_images: Patient's chromosomal microarray results showing a deletion covering XPO1 and USP34 genes and no deletion in parents (Chromosome Analysis Suite (Chas) Software).
case_images: TACG-17-117-g0009.jpg
case_images: PMC11268518_01_TACG-17-117-g0009.jpg
case_images: f0009
case_images: Parents were not carriers of that deletion (de novo lesion) (Figures 8 and 9).