Prenatal and Postnatal Growth Failure Associated with Maternal Heterodisomy for Chromosome 7

Overview

Journal J Med Genet

Specialty Genetics

Date 1995 Nov 1

PMID 8592330

Citations 14

Authors

S Langlois

S L Yong

R D Wilson

L C Kwong

D K Kalousek

Affiliations

Soon will be listed here.

Abstract

The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy rather than heterodisomy for chromosome 7 was present. We report a case of prenatal and postnatal growth retardation associated with a prenatal diagnosis of mosaicism for trisomy 7 confined to the placenta. DNA typing of polymorphic markers on chromosome 7 has established that the zygote originated as a trisomy 7 with two maternal and one paternal chromosomes 7 with subsequent loss of the paternal chromosome resulting in a disomic child with maternal heterodisomy for chromosome 7. The growth failure seen in this child with heterodisomy 7 lends strong support to the hypothesis of imprinted gene(s) on chromosome 7.

Citing Articles

Genetic variation in placental insufficiency: What have we learned over time?.

Wang L, Fernandez-Boyano I, Robinson W Front Cell Dev Biol. 2022; 10:1038358.

PMID: 36313546 PMC: 9613937. DOI: 10.3389/fcell.2022.1038358.

First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients.

Karaca E, Tuysuz B, Pehlivan S, Ozkinay F Iran J Pediatr. 2013; 22(4):445-51.

PMID: 23429302 PMC: 3533142.

Growth parameters in maternal uniparental disomy 7 and 14.

Kotzot D Eur J Pediatr. 2007; 166(11):1143-9.

PMID: 17203278 DOI: 10.1007/s00431-006-0396-5.

Diagnostic proceeding in Silver-Russell syndrome.

Eggermann T, Meyer E, Ranke M, Holder M, Spranger S, Zerres K Mol Diagn. 2006; 9(4):205-9.

PMID: 16392900 DOI: 10.1007/BF03260093.

Imprinting disorders: non-Mendelian mechanisms affecting growth.

Butler M J Pediatr Endocrinol Metab. 2003; 15 Suppl 5:1279-88.

PMID: 12510981 PMC: 5178135.

References

Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J . Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?. Am J Hum Genet. 1989; 45(3):373-80. PMC: 1683410. View

Nicholls R, Knoll J, Butler M, Karam S, Lalande M . Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989; 342(6247):281-5. PMC: 6706849. DOI: 10.1038/342281a0. View

Antonarakis S . Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group. N Engl J Med. 1991; 324(13):872-6. DOI: 10.1056/NEJM199103283241302. View

Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour J . Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991; 337(8743):694-7. DOI: 10.1016/0140-6736(91)90278-w. View

Wang J, Passage M, Yen P, Shapiro L, Mohandas T . Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet. 1991; 48(6):1069-74. PMC: 1683099. View

Hassold T, Pettay D, Freeman S, Grantham M, Takaesu N . Molecular studies of non-disjunction in trisomy 16. J Med Genet. 1991; 28(3):159-62. PMC: 1016797. DOI: 10.1136/jmg.28.3.159. View

Temple I, Cockwell A, Hassold T, Pettay D, Jacobs P . Maternal uniparental disomy for chromosome 14. J Med Genet. 1991; 28(8):511-4. PMC: 1016977. DOI: 10.1136/jmg.28.8.511. View

Robinson W, Bottani A, Xie Y, Balakrishman J, Binkert F, Machler M . Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet. 1991; 49(6):1219-34. PMC: 1686452. View

Zielenski J, Markiewicz D, Rininsland F, Rommens J, Tsui L . A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am J Hum Genet. 1991; 49(6):1256-62. PMC: 1686454. View

10.

Pentao L, Lewis R, Ledbetter D, Patel P, Lupski J . Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet. 1992; 50(4):690-9. PMC: 1682625. View

11.

Mascari M, Gottlieb W, Rogan P, Butler M, Waller D, Armour J . The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med. 1992; 326(24):1599-607. PMC: 7556354. DOI: 10.1056/NEJM199206113262404. View

12.

Fryburg J, DiMaio M, Mahoney M . Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein. Prenat Diagn. 1992; 12(3):157-62. DOI: 10.1002/pd.1970120303. View

13.

Spotila L, Sereda L, Prockop D . Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet. 1992; 51(6):1396-405. PMC: 1682915. View

14.

Fisher J, Harvey J, Lindenbaum R, Boyd P, Jacobs P . Molecular studies of trisomy 18. Am J Hum Genet. 1993; 52(6):1139-44. PMC: 1682277. View

15.

Fryburg J, DiMaio M, Yang-Feng T, Mahoney M . Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling. Prenat Diagn. 1993; 13(6):481-94. DOI: 10.1002/pd.1970130610. View

16.

Blouin J, Avramopoulos D, Pangalos C, Antonarakis S . Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet. 1993; 53(5):1074-8. PMC: 1682298. View

17.

Schinzel A, Basaran S, Bernasconi F, Karaman B, Yuksel-Apak M, Robinson W . Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet. 1994; 54(1):21-4. PMC: 1918072. View

18.

Eggerding F, Schonberg S, Chehab F, Norton M, Cox V, Epstein C . Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet. 1994; 55(2):253-65. PMC: 1918369. View

19.

Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J . Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet. 1994; 51(2):147-9. DOI: 10.1002/ajmg.1320510213. View

20.

Hoglund P, Holmberg C, de la Chapelle A, Kere J . Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet. 1994; 55(4):747-52. PMC: 1918292. View