upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

Tina D Hjortshøj, Anna R Sørensen, Melodi Yusibova, Bo M Hansen, Morten Dunø, Marie Balslev-Harder, Karen Grønskov, Johanna M van Hagen, Abeltje M Polstra, Thomas Eggermann, Martijn J J Finken, Zeynep Tümer

9 Citationer (Scopus)

Abstract

Silver-Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties and body asymmetry. Recently, upd(20)mat has been identified in few patients with SRS-like features, suggestive of a new imprinting disorder characterized by prenatal and postnatal growth failure. Here, we describe two male patients with upd(20) and feeding difficulties, prenatal and postnatal growth retardation and normal cognitive development. During pregnancy, confined placental mosaicism for trisomy 20 was detected in one of the patients but was not investigated further until identification of upd(20)mat in the neonatal period. To evaluate whether upd(20)mat should be part of the first trier genetic diagnostic in patients with growth retardation, we screened a large cohort of patients (n = 673) referred to our laboratories for SRS-testing without detecting any upd(20). Our results, along with the existing evidence, indicate that upd(20)mat is a very rare cause of growth retardation, but should be followed up when confined placental mosaicism for trisomy 20 mosaicism is observed during pregnancy.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind97
Udgave nummer6
Sider (fra-til)902-907
Antal sider6
ISSN0009-9163
DOI
StatusUdgivet - jun. 2020

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