A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 185-190

  Gruchy, Nicolas ^a   Barreau, Morgane ^a   Kessler, Ketty ^a   Gourdier, Dominique ^a   Leporrier, Nathalie ^a  

^a CAEN UNIVERSITY HOSPITAL   (France)

Author keywords

Complex chromosomal rearrangement; Fluorescent in situ hybridization; Insertional translocation; Monosomy 18q; Paternal transmission; Trisomy 6p

Indexed keywords

ADULT; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 18Q; CHROMOSOME 2; CHROMOSOME 6P; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLONE; COMPLEX CHROMOSOMAL REARRANGEMENT; FACE MALFORMATION; FAMILIAL DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC RECOMBINATION; GROWTH DISORDER; HERITABILITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; INSERTIONAL CHROMOSOME TRANSLOCATION; KARYOTYPE; MALE; MEIOSIS; MITOTIC RECOMBINATION; MUSCLE HYPOTONIA; PATERNITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ANAMNESIS; CHILD; CHROMOSOME 18; CHROMOSOME 6; CLINICAL FEATURE; COMPLEX CHROMOSOME REARRANGEMENT; DIFFERENTIAL DIAGNOSIS; DISEASE TRANSMISSION; FAMILY HISTORY; FAMILY STUDY; GENE TRANSFER; MOLECULAR PATHOLOGY; PATERNAL TRANSMISSION; PRESCHOOL CHILD;

CHROMOSOME FRAGILE SITES; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 6; FEMALE; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; SPECTRAL KARYOTYPING; TRANSLOCATION, GENETIC;

EID: 75149169307     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33154     Document Type: Article

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