Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism [2]

American Journal of Human Genetics

Volumn 64, Issue 5, 1999, Pages 1475-1478

  Kara Mostefa, A ^a   Raoul, O ^a   Lyonnet, S ^a   Amiel, J ^a   Munnich, A ^a   Vekemans, M ^a   Magnier, S ^a   Ossareh, B ^a   Bonnefont, J P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME DELETION; CHROMOSOME PAIRING; CHROMOSOME REARRANGEMENT; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC RECOMBINATION; GENETIC RISK; HUMAN; LETTER; MALE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; WILLIAMS BEUREN SYNDROME;

EID: 0033358654     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302362     Document Type: Letter

References (23)

1. A Baumer F Dutly D Balmer M Riegel T Tükel M Krajewska-Walasek AA Schinzel High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions Hum Mol Genet 7 1998 887 894
2. AJ Beuren J Apitz D Armjanz Supravalvular aortic stenosis in association with mental retardation and facial appearance Circulation 26 1962 1235 1240
3. J Burn Williams syndrome J Med Genet 23 1986 389 395
4. P Castorina A Selicorni F Bedeschi L Dalpra L Larizza Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome Am J Med Genet 69 1997 107 111
5. C Dib S Faure C Fizames D Samson N Drouot A Vignal P Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
6. F Dutly A Schinzel Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome Hum Mol Genet 5 1996 1893 1898
7. AK Ewart W Jin D Atkinson CA Morris MT Keating Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene J Clin Invest 93 1994 1071 1077
8. AK Ewart CA Morris D Atkinson W Jin K Sternes P Spallone AD Stock Hemizygosity at the elastin locus in a developmental disorder, Williams-Beuren syndrome Nat Genet 5 1993 11 16
9. K Foster R Ferrell L King-Underwood S Povey J Attwood R Rennick SE Humphries Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7 Ann Hum Genet 57 1993 87 96
10. JM Frangiskakis AK Ewart CA Morris CB Mervis J Bertrand BF Robinson BP Klein LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition Cell 86 1996 59 69
11. B Gilbert-Dussardier D Bonneau N Gigarel M Le Merrer D Bonnet N Philip F Serville A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome Am J Hum Genet 56 1995 542 544
12. G Gyapay J Morissette A Vignal C Dib C Fizames P Millasseau S Marc The 1993-1994 Généthon human genetic linkage map Nat Genet 7 1994 246 339
13. CA Morris J Loker G Ensing A Dean Stock Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene Am J Med Genet 46 1993 a 737 744
14. CA Morris IT Thomas F Greenberg Williams syndrome: autosomal dominant inheritance Am J Med Genet 47 1993 b 478 481
15. LR Osborne JA Herbrick T Greavette HHQ Heng LC Tsui SW Scherer PMS2-related genes flank the rearrangement breakpoints associated with Williams syndrome and other diseases on human chromosome 7 Genomics 45 1997 a 402 406
16. LR Osborne D Martindale SW Scherer XM Shi J Hinzenga HHQ Heng T Costa Identification of a 500 kb region that is commonly deleted in Williams syndrome patients Genomics 36 1996 328 336
17. LR Osborne S Soder XM Shi B Pober T Costa SW Scherer LC Tsui Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome Am J Hum Genet 61 1997 b 449 452
18. R Peoples L Perez Jurado YK Wang P Kaplan U Francke The gene for replication factor subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion Am J Hum Genet 58 1996 1370 1373
19. LA Perez Jurado YK Wang R Peoples A Coloma J Cruces U Francke A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK Hum Mol Genet 7 1998 325 334
20. WP Robinson J Waslynka F Bernasconi M Wang S Clark D Kotzot A Schinzel Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion Genomics 34 1996 17 23
21. M Tassabehji K Metcalfe WD Fergusson MJA Carette JK Dore D Donnai AP Read LIM-kinase deleted in Williams syndrome Nat Genet 13 1996 272 273
22. YK Wang C Harryman Samos R Peoples LA Perez Jurado R Nusse U Francke A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11. 23 Hum Mol Genet 6 1997 465 472
23. JCP Williams BG Barrat-Boyers JB Lowe Supravalvular aortic stenosis Circulation 24 1961 1311 1318