Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause
- 1 March 2002
- journal article
- Published by American Academy of Pediatrics (AAP) in Pediatrics
- Vol. 109 (3) , 441-448
Abstract
Objective. Many short-statured children lack an etiologic explanation for their retarded growth. Recently, uniparental disomy (UPD), the inheritance of both chromosomes of a chromosome pair from only 1 parent, has been associated with short stature for many chromosomes. Silver-Russell syndrome (SRS) represents an extreme syndrome of intrauterine growth retardation (IUGR) and slight dysmorphic signs, and maternal UPD of human chromosome 7 (matUPD7) has been observed in approximately 10% of SRS cases. In addition, matUPD7 has been reported in patients with only slight dysmorphic features and prenatal or postnatal growth retardation. The objectives of this study were to study the role of matUPD7 in growth failure of unknown cause and in cases of SRS, and to evaluate the efficiency of genetic testing for matUPD7 as a diagnostic tool. Methods. DNA samples were studied from 205 children, 92 girls and 113 boys, with short stature of unknown cause and their parents. The patient cohort included 39 cases of SRS, 91 patients with IUGR and subsequent postnatal short stature, and 75 patients with postnatal growth retardation only. MatUPD7 was screened for by genotyping DNA samples from the patient, mother, and father with 13 chromosome-7-specific polymorphic microsatellite markers. Results. Six (3%) of 205 matUPD7 cases were observed exclusively among 39 (15%) SRS patients studied. Patients with IUGR and/or postnatal growth retardation and with dysmorphic features did not reveal cases of matUPD7. Conclusions. Our results indicate that matUPD7 cases are predominantly observed among patients meeting the criteria of SRS, and matUPD7 is not a common cause for growth retardation. Genetic screening for cases of matUPD7 among growth-retarded patients should be focused on patients with severe IUGR and features of SRS. In addition, matUPD7 screening is advisable in individuals with cystic fibrosis and other recessive disorders mapped to chromosome 7 who have unusually short stature.Keywords
This publication has 31 references indexed in Scilit:
- Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?Journal of Medical Genetics, 2001
- Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashionHuman Molecular Genetics, 2000
- Maternal UPD 20 in a hyperactive child with severe growth retardationEuropean Journal of Human Genetics, 1999
- Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15American Journal of Medical Genetics, 1999
- Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissuesEuropean Journal of Human Genetics, 1998
- Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in FetusesGenomics, 1997
- Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.Journal of Medical Genetics, 1995
- Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardationHuman Molecular Genetics, 1995
- Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?Trends in Genetics, 1989
- Completion of mouse embryogenesis requires both the maternal and paternal genomesCell, 1984