Inverted duplications: How many of them are mosaic?

European Journal of Human Genetics

Volumn 12, Issue 9, 2004, Pages 713-717

  Pramparo, Tiziano ^a   Giglio, Sabrina ^b   Gregato, Giuliana ^a   de Gregori, Manuela ^a   Patricelli, Maria Grazia ^a   Ciccone, Roberto ^a   Scappaticci, Susi ^a   Mannino, Gaetano ^c   Lombardi, Claudio ^d   Pirola, Barbara ^b   Giorda, Roberto ^e   Rocchi, Mariano ^f   Zuffardi, Orsetta ^a,g,h  

^a UNIVERSITY OF PAVIA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

^c DESIO HOSPITAL   (Italy)

^d Studio Diagnostico Eco   (Italy)

^e SCIENTIFIC INSTITUTE   (Italy)

^f DAPEG   (Italy)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h Dept Biol Generale e Genetica Med ^*  (Italy)

Author keywords

Dicentric chromosome; Inverted duplication; Mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL VIABILITY; CHROMOSOME REARRANGEMENT; CYTOGENETICS; DICENTRIC CHROMOSOME; ECHOCARDIOGRAPHY; FEMALE; FETUS; GENE DELETION; GENE DUPLICATION; GENE LOCUS; HUMAN; KARYOTYPE; MEIOSIS; METAPHASE; MOSAICISM; NUCLEOTIDE SEQUENCE; PHENOTYPE; PLACENTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRANSVAGINAL ECHOGRAPHY; ZYGOTE;

ABORTED FETUS; CHORIONIC VILLI SAMPLING; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; GENETIC MARKERS; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; MOSAICISM;

EID: 4644342382     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201240     Document Type: Article

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