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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upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype : Two unrelated cases and screening of large cohorts. / Hjortshøj, Tina D.; Sørensen, Anna R.; Yusibova, Melodi; Hansen, Bo M.; Dunø, Morten; Balslev-Harder, Marie; Grønskov, Karen; van Hagen, Johanna M.; Polstra, Abeltje M.; Eggermann, Thomas; Finken, Martijn J.J.; Tümer, Zeynep.
I: Clinical Genetics, Bind 97, Nr. 6, 06.2020, s. 902-907.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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
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
AN - SCOPUS:85081295845
VL - 97
SP - 902
EP - 907
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 6
ER -
ID: 244324030