Prenatal counseling and the detection of copy-number variants

Genetics in Medicine

Volumn 15, Issue 4, 2013, Pages 316-317

  Benn, Peter A ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTISM; CHROMOSOME ABERRATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; ENVIRONMENTAL FACTOR; EPILEPSY; FAMILY HISTORY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; INCIDENCE; INTELLECTUAL IMPAIRMENT; LETTER; NEWBORN SCREENING; PENETRANCE; PHENOTYPE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; RISK ASSESSMENT;

EID: 84875965087     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.16     Document Type: Letter

References (4)

1. Vassos E, Collier DA, Holden S, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 2010;19:3477-3481.
2. Rosenfeld JA, Coe B P, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genet Med 2012; e-pub ahead of print 20 December 2012.
3. Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988;42:677-693.
4. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-2184.