Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 566-572

  Ahlbom, Bodil Edman ^a   Goetz, Peter ^b   Korenberg, Julie R ^c   Pettersson, Ulf ^a   Seemanova, Eva ^b   Wadelius, Claes ^a   Zech, Lore ^a   Annerén, Göran ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b CHARLES UNIVERSITY   (Czech Republic)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

chromosome 21; Down syndrome phenotype

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 21; CHROMOSOME ANALYSIS; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; DOWN SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; HUMAN; KARYOTYPE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 21; CONSANGUINITY; DOWN SYNDROME; FEMALE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION; INFANT, NEWBORN; KARYOTYPING; MALE; MENTAL RETARDATION; MIDDLE AGED; PEDIGREE; PHENOTYPE; PREGNANCY;

EID: 0029999611     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<566::AID-AJMG10>3.0.CO;2-G     Document Type: Article

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