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

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@article{96c85c04f3244afca4ae2884fda616de,
title = "upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts",
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.",
keywords = "failure to thrive, feeding difficulties, postnatal growth retardation, prenatal growth retardation, SGA, silver-Russell syndrome, upd(20)mat",
author = "Hjortsh{\o}j, {Tina D} and S{\o}rensen, {Anna R} and Melodi Yusibova and Hansen, {Bo M} and Morten Dun{\o} and Marie Balslev-Harder and Karen Gr{\o}nskov and {van Hagen}, {Johanna M} and Polstra, {Abeltje M} and Thomas Eggermann and Finken, {Martijn J J} and Zeynep T{\"u}mer",
note = "{\textcopyright} 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.",
year = "2020",
month = jun,
doi = "10.1111/cge.13727",
language = "English",
volume = "97",
pages = "902--907",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell Munksgaard",
number = "6",

}

RIS

TY - JOUR

T1 - upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype

T2 - Two unrelated cases and screening of large cohorts

AU - Hjortshøj, Tina D

AU - Sørensen, Anna R

AU - Yusibova, Melodi

AU - Hansen, Bo M

AU - Dunø, Morten

AU - Balslev-Harder, Marie

AU - Grønskov, Karen

AU - van Hagen, Johanna M

AU - Polstra, Abeltje M

AU - Eggermann, Thomas

AU - Finken, Martijn J J

AU - Tümer, Zeynep

N1 - © 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2020/6

Y1 - 2020/6

N2 - 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.

AB - 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.

KW - failure to thrive

KW - feeding difficulties

KW - postnatal growth retardation

KW - prenatal growth retardation

KW - SGA

KW - silver-Russell syndrome

KW - upd(20)mat

U2 - 10.1111/cge.13727

DO - 10.1111/cge.13727

M3 - Journal article

C2 - 32087029

VL - 97

SP - 902

EP - 907

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

IS - 6

ER -

ID: 59748205