What is it about?
The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficulties. We present a case of a 4-year-old boy with phenotypic features consistent with Silver-Russell syndrome. The sample was subjected to conventional karyotyping analysis. The analysis was also conducted using the SALSA MLPA Probemix ME032-A1 UDP7-UDP14 and Applied Biosystems CytoScan 750K Suite. MS-MLPA analysis revealed the presence of hypermethylation in the GRB-10 and MEST genes on chromosome 7. SNP-array analysis revealed a loss of heterozygosity (LOH) at 7q11.22q31.1 (38.7 Mb)
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Why is it important?
This report of a child who exhibits the clinical characteristics of SRS and presents a UPD of chromosome 7, most likely originating from the mother, once again demonstrates the involvement of these genes in SRS despite the incomplete understanding of the underlying mechanism. A
Perspectives
A multidisciplinary strategy has been proposed for the follow-up and treatment of this disease according to its etiology in the proband.
PhD Luis Alberto Mendez-Rosado
CNGM
Read the Original
This page is a summary of: Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome, OBM Genetics, June 2024, Open BioMedical Publishing Corporation,
DOI: 10.21926/obm.genet.2402247.
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