Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome - Another locus for Brachmann-de Lange syndrome on 4p?

American Journal of Medical Genetics

Volumn 91, Issue 3, 2000, Pages 180-184

  Mau, Ulrike A ^a,c   Backsch, Claudia ^a   Schaudt, Heidrun ^b   Trefz, Friedrich Karl ^b   Kaiser, Peter ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b District Hospital Reutlingen   (Germany)

^c Division of Clinical Genetics   (Germany)

Author keywords

Brachmann de Lange syndrome; Chromosomal abnormality; De Lange syndrome; Immune deficiency; Partial monosomy 8p; Partial trisomy 4p

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DE LANGE SYNDROME; FEMALE; GENE LOCUS; GROWTH RETARDATION; HAND MALFORMATION; HIRSUTISM; HUMAN; MENTAL DEFICIENCY; PARTIAL MONOSOMY; PARTIAL TRISOMY 4; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; DE LANGE SYNDROME; FEMALE; HUMANS; KARYOTYPING; MENTAL RETARDATION; MONOSOMY; TRISOMY;

EID: 0034020426     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000320)91:3<180::AID-AJMG4>3.0.CO;2-R     Document Type: Article

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