An interstitial de-novo microdeletion of 3q26.33q27.3 causing severe intrauterine growth retardation

2015 ◽  
Vol 24 (2) ◽  
pp. 68-74 ◽  
Author(s):  
Arjan Bouman ◽  
Marjan Weiss ◽  
Sandra Jansen ◽  
Margot Hankel ◽  
Aggie Nieuwint ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
De Novo ◽  
Intrauterine Growth

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

2021 ◽  
Author(s):  
José Ramón Fernández-Fructuoso ◽  
Cristina De la Torre-Sandoval ◽  
Madeleine Harbison ◽  
Sandra Chantot-bastaraud ◽  
I. Temple ◽  
...  
Keyword(s):  
Clinical Features ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
De Novo ◽  
Postnatal Growth ◽  
Postnatal Growth Retardation ◽  
Feeding Difficulties ◽  
Intrauterine Growth ◽  
Molecular Features ◽  
Silver Russell Syndrome

Silver Russell syndrome (SRS) is a congenital disorder characterised 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 IGF2 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.

Imbalance in the system L-arginin-NO in pathogenesis of obstetric complications and intrauterine growth retardation (Literature review)

2016 ◽  
pp. 43-47
Author(s):  
O.V. Basystyi ◽  
Keyword(s):  
Nitric Oxide ◽  
Literature Review ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
Obstetric Complications ◽  
Pathogenetic Role ◽  
Intrauterine Growth ◽  
System L ◽  
Nitric Oxide Deficiency

The data of domestic and foreign literature on etiology, pathogenesis and intrauterine growth retardation diagnosis are presented in the paper. It highlights pathogenetic role of nitric oxide deficiency in case of obstetric complications and intrauterine growth retardation. Key words: intrauterine growth retardation (IUGR), system L-arginin–NO, obstetric complications.

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