case_images: PMC10667683_01
case_images: Kidney biopsy showing small foci of fibrosis in tubulointerstitium and stratified tubular basal membranes.
case_images: fped-11-1283325-g001.jpg
case_images: PMC10667683_01_fped-11-1283325-g001.jpg
case_images: F1
case_images: Small foci of fibrosis in the tubulointerstium were observed, with stratified tubular basal membranes (Figures 1, 2).
case_images: Kidney biopsy showing small foci of fibrosis in tubulointerstitium.
case_images: fped-11-1283325-g002.jpg
case_images: PMC10667683_01_fped-11-1283325-g002.jpg
case_images: F2
case_images: Small foci of fibrosis in the tubulointerstium were observed, with stratified tubular basal membranes (Figures 1, 2).
case_images: PMC10667683_02
case_images: Array comparative genomic hybridization of the proband showed a 1.39 Mb heterozygous interstitial deletion at 17q12 arr[GRCh37] 17q12(34856055_36248918)x1.
case_images: fped-11-1283325-g003.jpg
case_images: PMC10667683_02_fped-11-1283325-g003.jpg
case_images: F3
case_images: Array-CGH analysis revealed a male molecular karyotype with a 1,392 kb heterozygous interstitial deletion on the long arm of chromosome 17 involving region q12 [hg 19 coordinates chr17: 34,856,055-36,248,918] according to the UCSC Genome Browser (GRCh37/hg19 assembly) (Figure 3).
case_images: MLPA (Multiplex ligation probe amplification) SALSA MLPA probemix P297-B2 microdeletion syndromes -2 (MRC-holland): rsa 17q12(LHX1,AATF,HNF1B)x1 mat.
case_images: fped-11-1283325-g004.jpg
case_images: PMC10667683_02_fped-11-1283325-g004.jpg
case_images: F4
case_images: MLPA (Multiplex Ligation Probe Amplification) using SALSA MLPA probemix P297-B2 Microdeletion Syndromes-2 (MRC-Holland). MLPA analysis revealed the loss of LHX1, AATF, and HNF1B genes in the patient, his mother, and his sister (Figure 4), and a normal copy number for all genes of this probemix in the father.