Williams syndrome in a preterm infant with phenotype of Alagille syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 18, 2008, Pages 2407-2411

  Shah, Prakesh S ^a   Murthy, Prashanth ^a   Skidmore, David ^b,c   Shaffer, Lisa G ^d   Bejjani, Bassem A ^d   Chitayat, David ^b,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

^d Signature Genomic Laboratories LLC   (United States)

Author keywords

Genotype; Microarray; Phenotype

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; BABY; BRAIN HEMORRHAGE; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME 7Q11.23; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CORONARY ARTERY DISEASE; FACE; GENE LOCUS; HEART LEFT VENTRICLE FAILURE; HUMAN; LIFE; LIVER DISEASE; MALE; MICROARRAY ANALYSIS; NEWBORN; PHENOTYPE; PREGNANCY; PREMATURITY; PRIORITY JOURNAL; SEPSIS; STROKE; WILLIAMS BEUREN SYNDROME; CHROMOSOME 7; DNA MICROARRAY; GENETICS;

ALAGILLE SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; WILLIAMS SYNDROME;

EID: 51449094955     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32356     Document Type: Article

References (18)

1. Beuren AJ, Apitz J, Harmjanz D. 1962. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26:1235-1240.
2. Beuren AJ, Schulze C, Eberle P, Harmjanz D, Apitz J. 1964. The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. AmJ Cardiol 13:471-483.
3. Dutly F, Schinzel A. 1996 Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum Mol Genet 5:1893-1898.
4. Ferrero GB, Biamino E, Sorasio L, Banaudi E, Peruzzi L, Forzano S, di Cantogno LV, Silengo MC. 2007. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients. Eur J Med Genet 50:327-337.
5. Li PH, Shu SG, Yang CH, Lo FC, Wen MC, Chi CS. 1996. Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20). Am J Med Genet 63:537-541.
6. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. 1997. Alagille syndrome is caused by mutations in human JAGGED1, which encodes a ligand for Notch1. Nat Genet 16:243-251.
7. Luders E, Di Paola M, Tomaiuolo F, Thompson PM, Toga AW, Vicari S, Petrides M, Caltagirone C. 2007. Callosal morphology in Williams syndrome: A new evaluation of shape and thickness. Neuroreport 18:203-207.
8. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. 2006. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 79:169-173.
9. Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG. 1995. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. Am J Hum Genet 56:1156-1161.
10. Osborne LR, Joseph-George AM, Scherer SW. 2006. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization. Methods Mol Med 126:113-128.
11. Pankau R, Partsch CJ, Winter M, Gosch A, Wessel A. 1996. Incidence and spectrum of renal abnormalities in Williams-Beuren syndrome. Am J Med Genet 63:301-304.
12. Pankau R, Siebert R, Kautza M, Schneppenheim R, Gosch A, Wessel A, Partsch CJ. 2001. Familial Williams-Beuren syndrome showing varying clinical expression. Am J Med Genet 98:324-329.
13. Perez Juraclo LA, Peoples R, Kaplan P, Hamel BC, Francke U. 1996. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59:781-792.
14. Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. 2006. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149:98-102.
15. Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. 2007. The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future. Am J Med Genet Part C Semin Med Genet 145C:335-345.
16. Urban Z, Helms C, Fekete G, Csiszar K, Bonnet D, Munnich A, Donis-Keller H, Boyd CD. 1996. 7q11,23 deletions in Williams syndrome arise as a consequence of unequal meiotic cross-over. Am J Hum Genet 59:958-962.
17. Williams JC, Barratt-Boyes BG, Lowe JB. 1961. Supravalvular aortic stenosis. Circulation 24:1311-1318.
18. Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. 1998. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin. Am J Med Genet 78:82-89.