Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.
Keyword(s):
De Novo
◽
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.
1993 ◽
Vol 82
(s392)
◽
pp. 79-81
◽
1985 ◽
Vol 59
◽
pp. 41-45
◽
1996 ◽
Vol 150
(2)
◽
pp. 231-242
◽
2011 ◽
pp. 299-324