Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3217-3222

  Lindstrand, A ^a,b   Malmgren, H ^a   Sahlen S ^a   Xin, H ^a   Schoumans, J ^a   Blennow, E ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ASTHMA; CASE REPORT; CHROMOSOME 1; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CYTOGENETICS; ECTOPIC KIDNEY; FEMALE; HUMAN; LETTER; MUSCLE HYPOTONIA; MYOPIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; STRABISMUS; UPPER RESPIRATORY TRACT INFECTION;

BASE PAIRING; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; SEQUENCE DELETION;

EID: 57149086473     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32570     Document Type: Letter

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