Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

Prenatal Diagnosis

Volumn 30, Issue 10, 2010, Pages 995-999

  Kjaergaard, S ^a   Sundberg, K ^a   Jorgensen F S ^b   Rohde, M D ^a   Lind, A M ^a   Gerdes, T ^a   Tabor, A ^a   Kirchhoff, M ^a  

^a International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^b HVIDOVRE HOSPITAL   (Denmark)

Author keywords

Amniocentesis; Chorionic villus sampling; Fetal malformation; Microdeletion syndrome; MLPA; Prenatal diagnosis; Subtelomere imbalance; Translocation

Indexed keywords

AMNIOCENTESIS; ANALYTIC METHOD; ARTICLE; CHORION VILLUS SAMPLING; CHROMOSOME 1P; CHROMOSOME 22Q; CHROMOSOME DELETION; FETUS KARYOTYPING; FETUS MALFORMATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN TISSUE; METAPHASE; MILLER DIEKER SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCHAL TRANSLUCENCY MEASUREMENT; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; RAPID ANEUPLOIDY TEST; RETROSPECTIVE STUDY; SMITH MAGENIS SYNDROME; TELOMERE; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; FEMALE; GESTATIONAL AGE; HUMANS; KARYOTYPING; METAPHASE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; PRENATAL DIAGNOSIS; REAGENT KITS, DIAGNOSTIC; RETROSPECTIVE STUDIES; TELOMERE;

EID: 77957366038     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2604     Document Type: Article

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