An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 593-597

  Auber, B ^a   Burfeind, P ^a   Thiels, C ^b   Alsat, E A ^a   Shoukier, M ^a   Liehr, T ^c   Nelle, H ^c   Bartels, I ^a   Salinas Riester, G ^a   Laccone, F ^d  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b ST JOSEF HOSPITAL   (Germany)

^c JENA UNIVERSITY HOSPITAL   (Germany)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME XQ; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE DUPLICATION; GENE SEQUENCE; GENE TRANSLOCATION; GROWTH RETARDATION; HUMAN; KARYOTYPE; LETTER; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SEIZURE; GENETICS; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; FEMALE; GENE DUPLICATION; HUMANS; PHENOTYPE; RETT SYNDROME; TRANSLOCATION, GENETIC;

EID: 77953919767     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01363.x     Document Type: Letter

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