Copy number variations in three children with sudden infant death

Clinical Genetics

Volumn 76, Issue 1, 2009, Pages 63-68

  Toruner, Gokce A ^a,b,c   Kurvathi, R ^a,b   Sugalski, R ^a,b   Shulman, L ^a,b   Twersky, S ^a,b   Pearson, P G ^a,b   Tozzi, R ^b   Schwalb, M N ^c   Wallerstein, R ^a,b,c  

^a HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^b HACKENSACK UNIVERSITY MEDICAL CENTER   (United States)

^c UMDNJ New Jersey Medical School   (United States)

Author keywords

Array based comparative genomic hybridization; Copy number variation; Sudden infant death syndrome; Unclassified sudden infant death

Indexed keywords

AMOXICILLIN PLUS CLAVULANIC ACID; GENOMIC DNA;

ANAMNESIS; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; DEHYDRATION; DNA ISOLATION; FAMILY STUDY; FLUID THERAPY; GENE CLUSTER; GENE LOCATION; GENE NUMBER; GENETIC VARIABILITY; HOSPITAL ADMISSION; HUMAN; HYDRONEPHROSIS; INFANT; OTITIS MEDIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE STUDY; RESPIRATORY DISTRESS; SUDDEN INFANT DEATH SYNDROME; VIRAL GASTROENTERITIS;

CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DATABASES, GENETIC; FATAL OUTCOME; GENE DOSAGE; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; SOFTWARE; SUDDEN INFANT DEATH;

EID: 67650872632     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01161.x     Document Type: Article

References (16)

1. Bajanowski T, Vege A, Byard RW et al. Sudden infant death syndrome (SIDS) - standardised investigations and classification: recommendations. Forensic Sci Int 2007: 165 (2-3): 129-143.
2. Krous HF, Beckwith JB, Byard RW et al. Sudden infant death syndrome and unclassified sudden infant deaths: A definitional and diagnostic approach. Pediatrics 2004: 114 (1): 234-238.
3. Moon RY, Horne RS, Hauck FR. Sudden infant death syndrome. Lancet 2007: 370 (9598): 1578-1587.
4. Weese-Mayer DE, Ackerman MJ, Marazita ML et al. Sudden infant death syndrome: Review of implicated genetic factors. Am J Med Genet A 2007: 143 (8): 771-788.
5. Sutherland GR, Carter RF. Cytogenetic studies: An essential part of the paediatric necropsy. J Clin Pathol 1983: 36 (2): 140-142.
6. Vernon-Roberts E. Infant death due to congenital abnormalities presenting as a homicide. Am J Forensic Med Pathol 1993: 14 (3): 208-211.
7. Weinberg SB, Purdy BA. Postmortem leukocyte culture studies in sudden infant death. Nature 1970: 226 (5252): 1264-1265.
8. Toruner GA, Streck DL, Schwalb MN et al. An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. Am J Med Genet A 2007: 143 (8): 824-829.
9. Iafrate AJ, Feuk L, Rivera MN et al. Detection of large-scale variation in the human genome. Nat Genet 2004: 36 (9): 949-951.
10. Berger SL. The complex language of chromatin regulation during transcription. Nature 2007: 447 (7143): 407-412.
11. Henikoff S. Nucleosome destabilization in the epigenetic regulation of gene expression. Nat Rev Genet 2008: 9 (1): 15-26.
12. Davies AF, Mirza G, Sekhon G et al. Delineation of two distinct 6p deletion syndromes. Hum Genet 1999: 104 (1): 64-72.
13. Engelen JJ, Marcelis CL, Alofs MG et al. De novo "pure" partial trisomy (6)(p22.1→pter) in a chromosome 15 with an enlarged satellite, identified by microdissection. Am J Med Genet 2001: 99 (1): 48-53.
14. Giardino D, Finelli P, Caufin D et al. Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation. Am J Med Genet 2002: 108(1): 36-40.
15. Scott DA, Klaassens M, Holder AM et al. Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet 2007: 16 (4): 424-430.
16. Guntheroth WG, Spiers PS. The triple risk hypotheses in sudden infant deaEh syndrome. Pediatrics 2002: 110 (5): e64.