Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

Ramon Fernandez-Fructuoso Jose; De la Torre-Sandoval Cristina; Harbison Madeleine D.Chantot-Bastaraud SandraTemple KarenMaria Lloreda-Garcia JoseOlmo-Sanchez MariaNetchine Irene

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Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

机译：Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

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Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS. Copyright (C) 2021 Wolters Kluwer Health, Inc. All rights reserved.

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《Clinical dysmorphology》 |2021年第4期|194-196|共3页
作者
Ramon Fernandez-Fructuoso Jose; De la Torre-Sandoval Cristina; Harbison Madeleine D.Chantot-Bastaraud SandraTemple KarenMaria Lloreda-Garcia JoseOlmo-Sanchez MariaNetchine Irene;
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Hosp Gen Univ Santa Lucia, Serv Pediat, Unidad Neonatol, Cartagena, Colombia;

Hosp Gen Univ Santa Lucia, Serv Pediat, Cartagena, Spain;

Icahn Sch Med, Mt Sinai Dept Pediat, New York, NY USAHop Armand Trousseau, AP HP, UF Genet Chromosom, Dept Genet, Paris, FranceUniv Southampton, Fac Med Southampton, Southampton, Hants, EnglandSorbonne Univ, INSERM UMR S 938, Ctr Rech St Antoine, Hop Armand Trousseau,AP HP,Explorat Fonct;

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正文语种英语
中图分类妇产科学;
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Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

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