Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - Results from four years' clinical application for over 8,700 patients

Molecular Cytogenetics

Volumn 6, Issue 1, 2013, Pages

  Ahn, Joo Wook ^a   Bint, Susan ^b   Bergbaum, Anne ^b   Mann, Kathy ^b   Hall, Richard P ^b   Ogilvie, Caroline MacKie ^a  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b Cytogenetics Department   (United Kingdom)

Author keywords

Array CGH; CNV; First line testing; G banded karyotype analysis

Indexed keywords

ADENOMATOUS POLYP; ADOLESCENT; ADULT; AGED; ALLELIC IMBALANCE; ARTICLE; AUTOSOME; CHILD; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME 17P; CHROMOSOME 17Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DIABETES MELLITUS; ECTRODACTYLY; FEMALE; GENE AMPLIFICATION; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INCIDENTAL FINDING; INFANT; INHERITANCE; KARYOTYPING; KIDNEY CYST; KLEEFTSTRA SYNDROME; MAJOR CLINICAL STUDY; MALE; MILLER DIEKER SYNDROME; MOSAICISM; NEUROLOGIC DISEASE; NEWBORN; NULL ALLELE; NULLISOMY; PATIENT REFERRAL; PELIZAEUS MERZBACHER DISEASE; PERINATAL PERIOD; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SMITH MAGENIS SYNDROME; SOTOS SYNDROME; WAGR SYNDROME; WILLIAMS BEUREN SYNDROME; WOLF HIRSCHHORN SYNDROME; X LINKED ICHTHYOSIS;

EID: 84875818687     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-6-16     Document Type: Article

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