PMC8851600_01
(A) WHO head circumference for boys aged 0-5 years. Head circumference of the patient is indicating a value below 1st percentile. (B) WHO height-for boys aged 5-19 years showing height of the patient below 2nd percentile. (C) WHO Weight for boys aged 2-20 years showing the weight of the patient below the 3rd percentile. (D) Renal DMSA showing horse-shoe kidneys (this panel was previously used in a conference poster for the patient case.
fendo-12-783235-g001.jpg
PMC8851600_06_fendo-12-783235-g001.jpg
f1
The duplication spans the cytogenetic band regions of q28.1 and q32.3 for a total of 38Mb (chr4:127,008,069-165,250,477 GRCh37, 20% of chr4) (Supplementary Figure S1).
PMC8851600_02
PMC8851600_03
(A) WHO head circumference for boys aged 0-5 years. Head circumference of the patient is indicating a value below 1st percentile. (B) WHO height-for boys aged 5-19 years showing height of the patient below 2nd percentile. (C) WHO Weight for boys aged 2-20 years showing the weight of the patient below the 3rd percentile. (D) Renal DMSA showing horse-shoe kidneys (this panel was previously used in a conference poster for the patient case.
fendo-12-783235-g001.jpg
PMC8851600_06_fendo-12-783235-g001.jpg
f1
The duplication spans the cytogenetic band regions of q28.1 and q32.3 for a total of 38Mb (chr4:127,008,069-165,250,477 GRCh37, 20% of chr4) (Supplementary Figure S1).
PMC8851600_04
PMC8851600_05
PMC8851600_06
(A) WHO head circumference for boys aged 0-5 years. Head circumference of the patient is indicating a value below 1st percentile. (B) WHO height-for boys aged 5-19 years showing height of the patient below 2nd percentile. (C) WHO Weight for boys aged 2-20 years showing the weight of the patient below the 3rd percentile. (D) Renal DMSA showing horse-shoe kidneys (this panel was previously used in a conference poster for the patient case.
fendo-12-783235-g001.jpg
PMC8851600_06_fendo-12-783235-g001.jpg
f1
The duplication spans the cytogenetic band regions of q28.1 and q32.3 for a total of 38Mb (chr4:127,008,069-165,250,477 GRCh37, 20% of chr4) (Supplementary Figure S1).
PMC8851600_07
PMC8851600_08
Mapping the duplication region of our patient against 23 other patients of similar pure 4q chromosome duplications from 19 published case reports obtained from literature. Filled bars show the interstitial duplication sizes of previously reported cases. Location is reported as chromosomal band size on the x axis. The axis leading to 0 represents the centromere and the opposite end represents the telomere. Chromosomal coordinates in base pairs (bps) are given in the Supplementary Table S2. The two patients from Thapa et al. (2013) each have a distinct duplication. The number of patients affected with each duplication is represented by the number of asterisks * symbols next to the citation on the y axis. The region reported by our study is shown with a pattern filled bar and includes the region of 4q28.1-32.3. The start and end of each region is mentioned as a data label at the beginning and end of each bar. Each case mentioned presents a different combination or spectrum of phenotypes. The table on the right of the plot represents the clinical presentation of specific phenotypes indicated on the first row in each of the case reports. + sign indicates the presence of the phenotype and a - sign indicates absence, blank boxes represent no available information.
fendo-12-783235-g002.jpg
PMC8851600_08_fendo-12-783235-g002.jpg
f2
We then performed a comparative analysis with all the previous cases reported with 4q duplications to deduce the genes potentially associated with the specific phenotypes seen in the patient (Figure 2).
PMC8851600_09