Detailed molecular and clinical characterization of three patients with 21q deletions

Clinical Genetics

Volumn 77, Issue 2, 2010, Pages 145-154

  Lindstrand, A ^a   Malmgren, H ^a   Sahlen S ^a   Schoumans, J ^a   Nordgren, A ^a   Ergander, U ^b   Holm, E ^c   Anderlid, B M ^a   Blennow, E ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c Sachsska Children's Hospital   (Sweden)

Author keywords

Array CGH; Chromosome 21; Fluorescence in situ hybridization; Interstitial deletion; Intrachromosomal rearrangement; Partial monosomy

Indexed keywords

POTASSIUM CHANNEL KCNE1; TRANSCRIPTION FACTOR RUNX1;

ARTICLE; CHILD; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 21Q; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; MOTOR DYSFUNCTION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; SYMPTOMATOLOGY;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 21; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; MALE;

EID: 73949139581     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01289.x     Document Type: Article

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