No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

Abstract

Intrauterine growth retardation (IUGR) is defined as length and/or weight below the 10th percentile. Etiology and, consequently, long-term outcome are extremely heterogeneous with chromosomal abnormalities found in up to 7%. Recently, uniparental disomy (UPD), i.e. the inheritance of both homologues of one pair of chromosomes from only one parent, was found in an increasing number of children with IUGR. Particularly, UPD of chromosome 7 was found in up to 10% of patients with IUGR and/or a phenotype of primordial growth retardation or Silver-Russell syndrome (SRS), but also UPD of chromosomes 2, 6, 14, 16, 20, and 22 was reported in single cases with IUGR. To evaluate impact and relevance of UPD in children with IUGR we investigated 23 sporadic cases with IUGR subsequently diagnosed as primordial growth retardation (n = 13) or SRS (n = 10) by molecular methods for UPD of chromosomes 2, 6, 14, 16, 20, and 22. No instance of UPD was found. Inheritance of all chromosomes investigated was biparental in all cases. Therefore, we conclude that UPD of these chromosomes is not a major cause of IUGR.

Epigenetic modulation of theIGF2/H19imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction

“…38,39 To evaluate the impact and relevance of UPD in IUGR we investigated placentae from 25 IUGR pregnancies. All autosomes and X chromosome were investigated in order to identify possible UPDs involving chromosomal regions so far unreported in the isolated IUGR phenotype.…”

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

“…UPD involving chromosomes 2, 6, 9, 14, 16, 20, and 22 in association with SRS have also been investigated, but ruled out 5557 58 …”

Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature

“…In the presence of UPD, there are some aspects to consider: homozygosity for mutations of an autosomal recessively inherited disorder in isodisomy; hidden mosaicism in the fetus and the placenta as well as CPM due to trisomy rescue and genomic imprinting. All of these mechanisms might be responsible for IUGR, therefore the UPD is correlated to IUGR (Robinson et al, 1997;Kotzot et al, 2000).…”