Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.
PDF (1014K)
Journal: 1994/October - American Journal of Human Genetics
ISSN: 0002-9297
PUBMED: 7942853
Abstract:
Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
Open in
PUBMED | PMC | Google Scholar | Wikipedia
Relations:
Content
Citations
(18)
References
(34)
Conditions
(2)
Chemicals
(2)
Organisms
(1)
Processes
(3)
Anatomy
(1)
Affiliates
(1)
Similar articles
Articles by the same authors
Discussion board
Am J Hum Genet 55(4): 747-752
PMID: 7942853

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

Abstract

Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1014K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.
icon of scanned page 747
747
icon of scanned page 748
748
icon of scanned page 749
749
icon of scanned page 750
750
icon of scanned page 751
751
icon of scanned page 752
752

Images in this article

Figure 1
Figure 1
on p.749
Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Brandriff B, Gordon L, Ashworth L, Watchmaker G, Moore D, 2nd, Wyrobek AJ, Carrano AV. Chromosomes of human sperm: variability among normal individuals. Hum Genet. 1985;70(1):18–24. [PubMed] [Google Scholar]
  • Cattanach BM, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature. 1985 Jun 6;315(6019):496–498. [PubMed] [Google Scholar]
  • Cattanach BM, Beechey CV. Autosomal and X-chromosome imprinting. Dev Suppl. 1990:63–72. [PubMed] [Google Scholar]
  • Copeland NG, Jenkins NA, Gilbert DJ, Eppig JT, Maltais LJ, Miller JC, Dietrich WF, Weaver A, Lincoln SE, Steen RG, et al. A genetic linkage map of the mouse: current applications and future prospects. Science. 1993 Oct 1;262(5130):57–66. [PubMed] [Google Scholar]
  • Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics. 1992 Aug;13(4):917–924. [PubMed] [Google Scholar]
  • DuRant RH, Linder CW. An evaluation of five indexes of relative body weight for use with children. J Am Diet Assoc. 1981 Jan;78(1):35–41. [PubMed] [Google Scholar]
  • Bajalica S, Allander SV, Ehrenborg E, Brøndum-Nielsen K, Luthman H, Larsson C. Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12-21.1. Hum Genet. 1992 May;89(2):234–236. [PubMed] [Google Scholar]
  • Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet. 1980;6(2):137–143. [PubMed] [Google Scholar]
  • Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991. Cytogenet Cell Genet. 1991;58(3-4):986–2156. [PubMed] [Google Scholar]
  • Fryburg JS, Dimaio MS, Yang-Feng TL, Mahoney MJ. Follow-up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling. Prenat Diagn. 1993 Jun;13(6):481–494. [PubMed] [Google Scholar]
  • Grzeschik KH, Tsui LC, Green ED. Report and abstracts of the First International Workshop on Human Chromosome 7 Mapping 1993. Cytogenet Cell Genet. 1994;65(1-2):52–73. [PubMed] [Google Scholar]
  • Haig D, Graham C. Genomic imprinting and the strange case of the insulin-like growth factor II receptor. Cell. 1991 Mar 22;64(6):1045–1046. [PubMed] [Google Scholar]
  • Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature. 1991 Jun 20;351(6328):665–667. [PubMed] [Google Scholar]
  • Holmberg C. Congenital chloride diarrhoea. Clin Gastroenterol. 1986 Jul;15(3):583–602. [PubMed] [Google Scholar]
  • Holmberg C, Perheentupa J, Launiala K, Hallman N. Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. Arch Dis Child. 1977 Apr;52(4):255–267.[PMC free article] [PubMed] [Google Scholar]
  • Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnson MP, 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]
  • Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet. 1993 Sep;5(1):74–78. [PubMed] [Google Scholar]
  • Kere J, Sistonen P, Holmberg C, de la Chapelle A. The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10686–10689.[PMC free article] [PubMed] [Google Scholar]
  • McFadden DE, Kalousek DK. Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. Am J Med Genet. 1991 Mar 15;38(4):535–538. [PubMed] [Google Scholar]
  • Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JA, Jeffreys AJ, Pembrey ME. Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991 Mar 23;337(8743):694–697. [PubMed] [Google Scholar]
  • Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JA, Jeffreys AJ, Ladda RL, Nicholls RD. The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med. 1992 Jun 11;326(24):1599–1607. [PubMed] [Google Scholar]
  • Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet. 1993 Apr 1;46(1):16–25. [PubMed] [Google Scholar]
  • Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 1989 Nov 16;342(6247):281–285.[PMC free article] [PubMed] [Google Scholar]
  • Norio R, Perheentupa J, Launiala K, Hallman N. Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet. 1971;2(3):182–192. [PubMed] [Google Scholar]
  • Pellestor F. Frequency and distribution of aneuploidy in human female gametes. Hum Genet. 1991 Jan;86(3):283–288. [PubMed] [Google Scholar]
  • Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm S, Morris MA, Schinzel AA. Nondisjunction of chromosome 15: origin and recombination. Am J Hum Genet. 1993 Sep;53(3):740–751.[PMC free article] [PubMed] [Google Scholar]
  • Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson WP. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet. 1994 Jan;54(1):21–24.[PMC free article] [PubMed] [Google Scholar]
  • Sorva R, Lankinen S, Tolppanen EM, Perheentupa J. Variation of growth in height and weight of children. II. After infancy. Acta Paediatr Scand. 1990 May;79(5):498–506. [PubMed] [Google Scholar]
  • Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 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]
  • Spotila LD, Sereda L, Prockop DJ. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet. 1992 Dec;51(6):1396–1405.[PMC free article] [PubMed] [Google Scholar]
  • Surani MA, Kothary R, Allen ND, Singh PB, Fundele R, Ferguson-Smith AC, Barton SC. Genome imprinting and development in the mouse. Dev Suppl. 1990:89–98. [PubMed] [Google Scholar]
  • Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet. 1989 Sep;45(3):373–380.[PMC free article] [PubMed] [Google Scholar]
  • Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M. A second-generation linkage map of the human genome. Nature. 1992 Oct 29;359(6398):794–801. [PubMed] [Google Scholar]
  • Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nat Genet. 1993 Oct;5(2):143–150. [PubMed] [Google Scholar]
Department of Medical Genetics, University of Helsinki, Finland.
Department of Medical Genetics, University of Helsinki, Finland.
Copyright notice
Abstract
Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.
Collaboration tool especially designed for Life Science professionals.Drag-and-drop any entity to your messages.