Copy Number Variants, Aneuploidies, and Human Disease

Clinics in Perinatology

Volumn 42, Issue 2, 2015, Pages 227-242

  Martin, Christa Lese ^a   Kirkpatrick, Brianne E ^a   Ledbetter, David H ^a  

^a GEISINGER HEALTH SYSTEM   (United States)

Author keywords

Aneuploidy; Chromosomal microarray; CNV; Copy number variant; Genomic databases; Neonatal; Noninvasive prenatal testing; Prenatal

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; CHROMOSOMAL MICROARRAY; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 22Q11; CHROMOSOME DISORDER; CHROMOSOME G BAND; CONGENITAL DISORDER; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ANALYSIS; GENETIC DATABASE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN GENOME; MICROARRAY ANALYSIS; NERVOUS SYSTEM MALFORMATION; NEWBORN PERIOD; NEXT GENERATION SEQUENCING; NON INVASIVE PROCEDURE; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; CONGENITAL ABNORMALITIES; GENETICS; NEWBORN; PROCEDURES;

ANEUPLOIDY; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; GENETIC TESTING; GENOME, HUMAN; HUMANS; INFANT, NEWBORN;

EID: 84931577679     PISSN: 00955108     EISSN: 15579840     Source Type: Journal    
DOI: 10.1016/j.clp.2015.03.001     Document Type: Review

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