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. 1999 Mar;36(3):204–207.

An analysis of common isodisomic regions in five mUPD 16 probands

S Abu-Amero 1, Z Ali 1, K Abu-Amero 1, P Stanier 1, G Moore 1
PMCID: PMC1734327  PMID: 10204845

Abstract

Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although it is likely that the CPM largely contributes to the IUGR, postnatal growth retardation and other common abnormalities may also be attributed to the mUPD. Five cases with mUPD 16 and CPM were analysed for common regions of isodisomy using polymorphic markers distributed along the length of the chromosome. In each case the aberration was consistent with a maternal meiosis I error. Complete isodisomy was not detected in any of the patients although two patients were found to be mixed with both iso- and heterodisomy. Interestingly, the patient with the greater region of isodisomy was the most severely affected. The fact that there were no common regions of isodisomy in any of the patients supports the hypothesis that imprinted genes, rather than recessive mutations, may play a role in the shared phenotypes.


Keywords: IUGR; mUPD; heterodisomy; isodisomy

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Selected References

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  1. Abu-Amero S. N., Ali Z., Bennett P., Vaughan J. I., Moore G. E. Expression of the insulin-like growth factors and their receptors in term placentas: a comparison between normal and IUGR births. Mol Reprod Dev. 1998 Mar;49(3):229–235. doi: 10.1002/(SICI)1098-2795(199803)49:3<229::AID-MRD2>3.0.CO;2-Q. [DOI] [PubMed] [Google Scholar]
  2. Abu-Amero S., Price S., Wakeling E., Stanier P., Trembath R., Preece M. A., Moore G. E. Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families. Eur J Hum Genet. 1997 Jul-Aug;5(4):235–241. [PubMed] [Google Scholar]
  3. Dobson P. C., Abell D. A., Beischer N. A. Mortality and morbidity of fetal growth retardation. Aust N Z J Obstet Gynaecol. 1981 May;21(2):69–72. doi: 10.1111/j.1479-828x.1981.tb00781.x. [DOI] [PubMed] [Google Scholar]
  4. Gairdner D., Pearson J. A growth chart for premature and other infants. Arch Dis Child. 1971 Dec;46(250):783–787. doi: 10.1136/adc.46.250.783. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Garber A., Carlson D., Schreck R., Fischel-Ghodsian N., Hsu W. T., Oeztas S., Pepkowitz S., Graham J. M., Jr Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn. 1994 Apr;14(4):257–266. doi: 10.1002/pd.1970140405. [DOI] [PubMed] [Google Scholar]
  6. Hahnemann J. M., Vejerslev L. O. European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet. 1997 May 16;70(2):179–187. doi: 10.1002/(sici)1096-8628(19970516)70:2<179::aid-ajmg15>3.0.co;2-g. [DOI] [PubMed] [Google Scholar]
  7. Kalousek D. K., Barrett I. Genomic imprinting related to prenatal diagnosis. Prenat Diagn. 1994 Dec;14(13):1191–1201. doi: 10.1002/pd.1970141305. [DOI] [PubMed] [Google Scholar]
  8. Kalousek D. K. Current topic: confined placental mosaicism and intrauterine fetal development. Placenta. 1994 Apr;15(3):219–230. doi: 10.1016/0143-4004(94)90014-0. [DOI] [PubMed] [Google Scholar]
  9. Kalousek D. K., Langlois S., Barrett I., Yam I., Wilson D. R., Howard-Peebles P. N., Johnson M. P., Giorgiutti E. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993 Jan;52(1):8–16. [PMC free article] [PubMed] [Google Scholar]
  10. Moore G. E., Ali Z., Khan R. U., Blunt S., Bennett P. R., Vaughan J. I. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of thirty-five severely affected babies. Am J Obstet Gynecol. 1997 Feb;176(2):294–299. doi: 10.1016/s0002-9378(97)70488-5. [DOI] [PubMed] [Google Scholar]
  11. Pletcher B. A., Sanz M. M., Schlessel J. S., Kunaporn S., McKenna C., Bialer M. G., Alonso M. L., Zaslav A. L., Brown W. T., Ray J. H. Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns. Prenat Diagn. 1994 Oct;14(10):933–940. doi: 10.1002/pd.1970141007. [DOI] [PubMed] [Google Scholar]
  12. Robinson W. P., Barrett I. J., Bernard L., Telenius A., Bernasconi F., Wilson R. D., Best R. G., Howard-Peebles P. N., Langlois S., Kalousek D. K. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet. 1997 Apr;60(4):917–927. [PMC free article] [PubMed] [Google Scholar]
  13. Schneider A. S., Bischoff F. Z., McCaskill C., Coady M. L., Stopfer J. E., Shaffer L. G. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet. 1996 Dec 11;66(2):204–208. doi: 10.1002/(SICI)1096-8628(19961211)66:2<204::AID-AJMG16>3.0.CO;2-X. [DOI] [PubMed] [Google Scholar]
  14. Spence J. E., Perciaccante R. G., Greig G. M., Willard H. F., Ledbetter D. H., Hejtmancik J. F., Pollack M. S., O'Brien W. E., Beaudet A. L. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet. 1988 Feb;42(2):217–226. [PMC free article] [PubMed] [Google Scholar]
  15. Vaughan J., Ali Z., Bower S., Bennett P., Chard T., Moore G. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn. 1994 Aug;14(8):751–756. doi: 10.1002/pd.1970140817. [DOI] [PubMed] [Google Scholar]
  16. Whiteford M. L., Coutts J., al-Roomi L., Mather A., Lowther G., Cooke A., Vaughan J. I., Moore G. E., Tolmie J. L. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease. Prenat Diagn. 1995 Jun;15(6):579–584. doi: 10.1002/pd.1970150613. [DOI] [PubMed] [Google Scholar]
  17. Wilkins-Haug L., Roberts D. J., Morton C. C. Confined placental mosaicism and intrauterine growth retardation: a case-control analysis of placentas at delivery. Am J Obstet Gynecol. 1995 Jan;172(1 Pt 1):44–50. doi: 10.1016/0002-9378(95)90082-9. [DOI] [PubMed] [Google Scholar]
  18. Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn. 1995 Feb;15(2):109–121. doi: 10.1002/pd.1970150202. [DOI] [PubMed] [Google Scholar]

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