PMC6503735_01
Growth curve of the patient in centimeters and standard deviation score (SDS).
fendo-10-00263-g0002.jpg
PMC6503735_01_fendo-10-00263-g0002.jpg
F2
The growth curve is shown in Figure 2.
(A) Paired homologous chromosomes15 with Derivative chromosome 15 (left couple, on the right) and apparently normal 15 G-banded chromosomes 15 (middle couple) and (right couple). The two apparently normal chromosomes were then shown to carry a 15q terminal deletion (middle couple, on the right) and be a derivative chromosome 11 (right couple, on the right). (B) The SNP array profile shows a normal chromosome 21 (top), a heterozygous homogeneous 15q terminal deletion (middle, light purple area), and a mosaic gain on chromosome 11p (bottom, light purple area). (C) FISH [with a specific 11p subtelomeric probe (green), specific 15q22 probe (aqua blue), specific 15q subtelomeric probe (yellow), and specific subtelomeric 21q probe (red)] and schematic representation showing chromosomes 11, 15, and 21 in the three cell lines. First cell line with an unbalanced 15q;21p translocation. (D) Second cell line with a deleted 15q chromosome. The derivative chromosome 15 is missing a yellow signal. (E) Third cell line with an unbalanced 11p;15q translocation. The derivative chromosome 15 has a supernumerary green signal and no yellow signal.
fendo-10-00263-g0003.jpg
PMC6503735_02_fendo-10-00263-g0003.jpg
F3
Subsequent fluorescent in situ hybridization (FISH) analysis with specific subtelomeric 11p, 15q, and 21q probes showed a supernumerary signal for 11p at the end of a deleted 15qter chromosome in ~30% of cells, accounting for an unbalanced translocation t(11p;15q), with a normal signal on the two telomeres of 21q (Figures 3A right, E). In approximately 20% of cells, one signal for the chromosome 21q telomere was located at the end of the deleted 15qter chromosome with a normal signal for the two 11p telomeric probes, accounting for an unbalanced translocation t(15q;21q) (Figures 3A left, C). In the remaining cells, with a normal signal on telomeres 11p and 21q, only one signal from the telomeric 15q probe was detected, corresponding to a 15q deletion (Figures 3A middle, D).
PMC6503735_02
(A) Paired homologous chromosomes15 with Derivative chromosome 15 (left couple, on the right) and apparently normal 15 G-banded chromosomes 15 (middle couple) and (right couple). The two apparently normal chromosomes were then shown to carry a 15q terminal deletion (middle couple, on the right) and be a derivative chromosome 11 (right couple, on the right). (B) The SNP array profile shows a normal chromosome 21 (top), a heterozygous homogeneous 15q terminal deletion (middle, light purple area), and a mosaic gain on chromosome 11p (bottom, light purple area). (C) FISH [with a specific 11p subtelomeric probe (green), specific 15q22 probe (aqua blue), specific 15q subtelomeric probe (yellow), and specific subtelomeric 21q probe (red)] and schematic representation showing chromosomes 11, 15, and 21 in the three cell lines. First cell line with an unbalanced 15q;21p translocation. (D) Second cell line with a deleted 15q chromosome. The derivative chromosome 15 is missing a yellow signal. (E) Third cell line with an unbalanced 11p;15q translocation. The derivative chromosome 15 has a supernumerary green signal and no yellow signal.
fendo-10-00263-g0003.jpg
PMC6503735_02_fendo-10-00263-g0003.jpg
F3
Subsequent fluorescent in situ hybridization (FISH) analysis with specific subtelomeric 11p, 15q, and 21q probes showed a supernumerary signal for 11p at the end of a deleted 15qter chromosome in ~30% of cells, accounting for an unbalanced translocation t(11p;15q), with a normal signal on the two telomeres of 21q (Figures 3A right, E). In approximately 20% of cells, one signal for the chromosome 21q telomere was located at the end of the deleted 15qter chromosome with a normal signal for the two 11p telomeric probes, accounting for an unbalanced translocation t(15q;21q) (Figures 3A left, C). In the remaining cells, with a normal signal on telomeres 11p and 21q, only one signal from the telomeric 15q probe was detected, corresponding to a 15q deletion (Figures 3A middle, D).