Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family

American Journal of Medical Genetics, Part A

Volumn 149, Issue 2, 2009, Pages 237-241

  Filges, Isabel ^a   Röthlisberger, Benno ^b   Noppen, Christoph ^c   Boesch, Nemya ^a   Wenzel, Friedel ^a   Necker, Judith ^a   Binkert, Franz ^d   Huber, Andreas R ^b   Heinimann, Karl ^a   Miny, Peter ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b CANTONAL HOSPITAL AARAU   (Switzerland)

^c Institut Dr Viollier   (Switzerland)

^d MCL Medical Laboratories   (Switzerland)

Author keywords

Array CGH; Benign copy number variation; Benign phenotype; Deletion 13q21.1; Euchromatic variant

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME VARIANT; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPING; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY HEALTH; GENE DOSAGE; HUMANS; KARYOTYPING; MALE; PEDIGREE; PHENOTYPE;

EID: 59849085518     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32622     Document Type: Article

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