Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 548-553

  Grossmann, V ^a   HoCkner M ^b   Karmous Benailly, H ^b   Liang, D ^c   Puttinger, R ^d   Quadrelli, R ^e   Rothlisberger B ^f   Huber, A ^f   Wu, L ^d   Spreiz, A ^a   Fauth, C ^a   Erdel, M ^a   Zschocke, J ^a   Utermann, G ^a   Kotzot, D ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c CENTRAL SOUTH UNIVERSITY   (China)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

^e Hospital Italiano Montevideo   (Uruguay)

^f CANTONAL HOSPITAL AARAU   (Switzerland)

Author keywords

Complex chromosomal rearrangements; Formation; Meiosis; Mitosis

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 11P; CHROMOSOME 16Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 2P; CHROMOSOME 3Q; CHROMOSOME 7Q; CHROMOSOME 8Q; CHROMOSOME 9Q; CHROMOSOME BREAKAGE; CHROMOSOME NUMBER; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPLEX CHROMOSOME REARRANGEMENT; DIAGNOSTIC KIT; FATHER; FEMALE; GENE AMPLIFICATION; GERM LINE; HAPLOTYPE; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MICRODISSECTION; MICROSATELLITE MARKER; MULTIPLE MALFORMATION SYNDROME; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WHOLE GENOME AMPLIFICATION;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHROMOSOME BREAKPOINTS; GENOME, HUMAN; HAPLOTYPES; HUMANS; MALE; MICRODISSECTION; MICROSATELLITE REPEATS; TRANSLOCATION, GENETIC;

MUS;

EID: 78149258638     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01419.x     Document Type: Article

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