Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia [6]

American Journal of Human Genetics

Volumn 62, Issue 6, 1998, Pages 1551-1555

  Pan, Y ^a   McCaskill, C D ^a   Thompson, K H ^a   Hicks, J ^a   Casey, B ^a   Shaffer, L G ^a   Craigen, W J ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 7; CHROMOSOME MARKER; CHROMOSOME REARRANGEMENT; CYSTIC FIBROSIS; GENETIC ANALYSIS; HUMAN; IMMOTILE CILIA SYNDROME; KARYOTYPE; LETTER; MALE; PATHOPHYSIOLOGY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SITUS INVERSUS; UNIPARENTAL DISOMY;

EID: 0031778075     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301857     Document Type: Letter

References (35)

1. MJ Abramowicz M Andrien E Dupont H Dorchy J Parma L Duprez FD Ledley Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus J Clin Invest 94 1994 418 421
2. B Afzelius B Mossberg Immotile-cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome C Scriver AL Beaudet W Sly D Valle The metabolic and molecular bases of inherited disease 7th ed 1995 McGraw-Hill New York 3943 3954
3. P Benlian L Foubert E Gagné L Bernard JL De Gennes S Langlois W Robinson Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency Am J Hum Genet 59 1996 431 436
4. RH Burnell EF Robertson Cystic fibrosis in a patient with Kartagener syndrome Am J Dis Child 127 1974 746 747
5. B Casey M Devoto K Jones A Ballabio Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1 Nat Genet 5 1993 403 407
6. B Cattanach M Kirk Differential activity of maternally and paternally derived chromosome regions in mice Nature 315 1985 496 498
7. J Collignon I Varlet EJ Robertson Relationship between asymmetric nodal expression and the direction of embryonic turning Nature 381 1996 155 158
8. FA Eggerding SA Schonberg FF Chehab ME Norton VA Cox CJ Epstein Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation Am J Hum Genet 55 1994 253 265
9. E Engel A new genetic concept: uniparental disomy and its potential effect, isodisomy Am J Med Genet 6 1980 137 143
10. GB Ferrero M Gebbia G Pilia D Witte A Peier RJ Hopkin WJ Craigen A submicroscopic deletion in Xq26 associated with familial situs ambiguus Am J Hum Genet 61 1997 395 401
11. M Gebbia GB Ferrero G Pilia MT Bassi AS Aylsworth LM Bird M Penman-Splitt X-linked situs abnormalities result from mutations in ZIC3 Nat Genet 17 1997 305 308
12. M Genuardi M Pomponi V Sammito A Bellussi M Zollino G Neri Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1 Am J Med Genet 47 1993 823 831
13. G Gyapay J Morissette A Vignal C Dib C Fizames P Millasseau S Marc The 1993–94 Généthon human genetic linkage map Nat Genet 7 1994 246 339
14. F Herzon S Murphy Normal ciliary ultrastructure in children with Kartagener's syndrome Ann Otol Rhinol Laryngol 89 1980 81 83
15. P Höglund C Holmberg A de la Chapelle J Kere Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea Am J Hum Genet 55 1994 747 752
16. V Hubbard P Davis PA DiSant'Agnese P Gordon R Schwartz Associated growth hormone deficiency and cystic fibrosis: a report of two cases Am J Dis Child 134 1980 317 319
17. BA Hyatt JL Lohr HJ Yost Initiation of vertebrate left-right axis formation by maternal vg1 Nature 384 1996 62 65
18. CP Koiffmann A Wajntal DH de Souza CH Gonzalez MV Coates Human situs determination and constitution 46,XY,ins (7;8)(q22;q12q24) Am J Med Genet 47 1993 568 569
19. D Kotzot S Schmitt F Bernasconi W Robinson I Lurie H Ilyina K Mehes Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation Hum Mol Genet 4 1995 583 587
20. S Langlois S Yong R Wilson L Kwong D Kalousek Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7 J Med Genet 32 1995 871 875
21. D Ledbetter E Engel Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis Hum Mol Genet 4 1995 1757 1764
22. P Liang AB Pardee Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction Science 257 1992 967 971
23. S Liechti-Gallati R Kraemer Cystic fibrosis mutations and immotile cilia syndrome Clin Genet 47 1995 328 329
24. M Pedersen Specific types of abnormal ciliary motility in Kartagener's syndrome and analogous respiratory disorders Eur J Respir Dis Suppl 64 1983 78 90
25. L Pentao RA Lewis DH Ledbetter PI Patel JR Lupski Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy Am J Hum Genet 50 1992 690 699
26. MA Preece SM Price V Davies L Clough P Stanier RC Trembath GE Moore Maternal uniparental disomy 7 in Silver-Russell syndrome J Med Genet 34 1997 6 9
27. L Pulkkinen F Bullrich P Czarnecki L Weiss J Uitto Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa Am J Hum Genet 61 1997 611 619
28. F Quan J Janas S Toth-Fejel DB Johnson JK Wolford BW Popovich Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy Am J Hum Genet 60 1997 160 165
29. J Rutland PJ Cole Non-invasive sampling of nasal cilia for measurement of beat frequency and study of ultrastructure Lancet 2 1980 564 565
30. J Rutland PJ Cole Nasal mucociliary clearance and beat frequency in cystic fibrosis compared with sinusitis and bronchiectasis Thorax 36 1981 654 658
31. JE Spence RG Perciaccante GM Grieg HF Willard DH Ledbetter JF Hejtmancik MS Pollack Uniparental disomy as a mechanism for human genetic disease Am J Hum Genet 42 1988 217 226
32. LD Spotila L Sereda DJ Prockop Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus Am J Hum Genet 51 1992 1396 1405
33. TN Teknos R Metson T Chasse G Balercia GR Dickersin New developments in the diagnosis of Kartagener's syndrome Otolaryngol Head Neck Surg 116 1997 68 74
34. R Voss E Ben-Simon A Avital S Godfrey J Zlotogora J Dagan Y Tikochinski Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Hum Genet 45 1989 373 380
35. T Woodage M Prasad JW Dixon RE Selby DR Romain LM Columbano-Green D Graham Bloom syndrome and maternal uniparental disomy for chromosome 15 Am J Hum Genet 55 1994 74 80