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Correspondence to Author: Susinna Neghsolo, Gianmca Cafdi, Benedea Antoello, Erisa Benetu. 

Department of Women’s and Children’s Health, Padua University Hospital, Corso Stati Uniti, 4, 35127 Padua, Italy.

Abstract:

Renal cysts and diabetes syndrome are linked to the very uncommon proximal 17q12 microdeletion, which includes the deletion of the HNF1B gene (RCAD). Numerous phenotypes, including as diabetes and renal cysts, are brought on by this chromosomal rearrangement and are consistent with Mullerian aplasia/dysgenesis, autism spectrum disorder and schizophrenia, learning disabilities, speech delay, transient newborn hypercalcemia, neonatal cholestasis, and maturity-onset diabetes of the young type 5 (MODY5). Using CGH array analysis, we describe a girl who has a 17q12 microdeletion (about 1.4 Mb, including the HNF1B and LHX1 genes). Her mother had the identical deletion found in her. Her mother had diabetes and bilateral renal cysts, whereas the proband had been born with hypertension and bilateral kidneys that were hypodysplastic and cystic.Genetic testing was only done following a referral to a pediatric nephrologist, and no clinical concern was raised despite suggestive signs in the mother and girl. The discovery of a 17q12 microdeletion in youngsters may have A major influence on earlyonset type II diabetes diagnosis, prognosis, and treatment of renal impairment. This 17q12 microdeletion family demonstrates the significance of incorporating it early in the examination of the diagnostic workup of children with renal cystic disorders and validates intrafamilial clinical diversity

Keywords:Genetics, microdeletion, renal cysts, familial transmission, chromosome 17, and pediatric nephrology.

Citation:

Dr.Susinna Neghsolo, An Example Of Intrafamilial Phenotypic Variability And Diagnostic Challenges In The Transmission Of 17q12 Microdeletion From Mother To Child. Journal of DNA Research 2025.