Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome

American Journal of Medical Genetics

Volumn 71, Issue 4, 1997, Pages 479-485

  Courtens, Winnie ^a   Speleman, Frank ^b   Messiaen, Ludwine ^b   Bormans, Jeannie ^c   Van Roy, Nadine ^b   Vamos, Esther ^a  

^a BRUGMANN UNIVERSITY HOSPITAL   (Belgium)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

Author keywords

Interstitial deletion of chromosome 2q; Mental retardation; Microcephaly; Seckel syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 2Q; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GROWTH RETARDATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR ACTIVITY; RETROSPECTIVE STUDY; SECKEL SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; DWARFISM; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MICROCEPHALY; PHENOTYPE;

EID: 0030881107     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<479::AID-AJMG21>3.0.CO;2-C     Document Type: Article

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