Cryptic duplication of 21q in an individual with a clinical diagnosis of Down syndrome

Clinical Genetics

Volumn 59, Issue 6, 2001, Pages 438-443

  Forster Gibson, C J ^a   Davies, J ^a   MacKenzie, J J ^a   Harrison, K ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

21q duplication; CGH; Down syndrome

Indexed keywords

CONTIG;

ADULT; AGE; ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME DUPLICATION; CHROMOSOME PAINTING; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL HEART DISEASE; COSMID; DNA PROBE; DOWN SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; KARYOTYPE; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; CHROMOSOMES, HUMAN, PAIR 21; DOWN SYNDROME; GENE DUPLICATION; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PHENOTYPE;

EID: 0034950501     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590609.x     Document Type: Article

References (11)

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4. Clinical diagnosis of Downs syndrome
5. Molecular mapping of twenty-four features of Down syndrome on chromosome 21
6. Tetrasomy 21 pter→q22.1 and Down syndrome: Molecular definition of the region
7. Clinical, cytogenetic and molecular genetic characterization of two unrelated patients with different duplications of 21q
8. Free proximal trisomy 21 in the mother and malformation syndrome in the son
9. Down syndrome
10. BAC and PAC contigs covering 3.5 Mb of the Down syndrome congenital heart disease region between D21S55 and MX1 on chromosome 21
11. Down syndrome with partial duplication and del (21) syndrome: Study protocol and call for collaboration. Study I: Clinical assessment