Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical down syndrome phenotype

American Journal of Medical Genetics

Volumn 91, Issue 2, 2000, Pages 116-122

  Barbi, G ^a,c   Kennerknecht, I ^a   Wohr G ^a   Avramopoulos, D ^b   Karadima, G ^b   Petersen, M B ^b  

^a UNIVERSITY OF ULM MEDICAL SCHOOL   (Germany)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

Analphoid marker chromosome; Microdissection; Monosomy 21; Neocentromere; Trisomy 21

Indexed keywords

SATELLITE DNA;

ARTICLE; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME 21Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MICRODISSECTION; CHROMOSOME REARRANGEMENT; DOWN SYNDROME; HUMAN; MONOSOMY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; FACIES; GENE DELETION; GENE LIBRARY; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MODELS, GENETIC; MONOSOMY; PHENOTYPE; TRISOMY;

EID: 0034011947     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000313)91:2<116::AID-AJMG7>3.0.CO;2-Q     Document Type: Article

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