Clinical Utility of Array Comparative Genomic Hybridization: Uncovering Tumor Susceptibility in Individuals with Developmental Delay

Journal of Pediatrics

Volumn 154, Issue 1, 2009, Pages 143-146

  Adam, Margaret P ^a   Justice, April N ^a   Schelley, Susan ^b   Kwan, Andrea ^b   Hudgins, Louanne ^b   Martin, Christa L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FACE DYSMORPHIA; GENE DELETION; GENETICS; GENOMICS; GROWTH RETARDATION; HUMAN; MALE; MICROARRAY ANALYSIS; MORBIDITY; MORTALITY; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; GENES, P53; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; LI-FRAUMENI SYNDROME; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEUTZ-JEGHERS SYNDROME; PROTEIN-SERINE-THREONINE KINASES;

EID: 57249086236     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2008.07.045     Document Type: Article

References (9)

1. Menten B., Maas N., Thienpont B., Buysse K., Vandesompele J., Melotte C., et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 43 (2006) 625-633
2. Aradhya S., Manning M.A., Splendore A., and Cherry A.M. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet A 143 (2007) 1431-1441
3. Hemminki A., Markie D., Tomlinson I., Avizienyte E., Roth S., Loukola A., et al. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391 (1998) 184-187
4. Olivier M., Goldgar D.E., Sodha N., Ohgaki H., Kleihues P., Hainaut P., et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res 63 (2003) 6643-6650
5. de Vries B.B., Pfundt R., Leisink M., Koolen D.A., Vissers L.E., Janssen I.M., et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77 (2005) 606-616
6. Wordsworth S., Buchanan J., Regan R., Davidson V., Smith K., Dyer S., et al. Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom. Genom Med 1 (2007) 35-45
7. Aretz S., Stienen D., Uhlhaas S., Loff S., Back W., Pagenstecher C., et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 26 (2005) 513-519
8. Wirtzfeld D.A., Petrelli N.J., and Rodriguez-Bigas M.A. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risk, and surveillance recommendations. Ann Surg Oncol 8 (2001) 319-327
9. Bougeard G., Brugieres L., Chompret A., Gesta P., Charbonnier F., Valent A., et al. Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene. Oncogene 22 (2003) 840-846