Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type

European Journal of Medical Genetics

Volumn 48, Issue 3, 2005, Pages 301-309

  Menten, Björn ^a   Buysse, Karen ^a   Vandesompele, Jo ^a   De Smet, Els ^a   De Paepe, Anne ^a   Speleman, Frank ^a   Mortier, Geert ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Array CGH; Chondrodysplasia punctata brachytelephalangic type; Duplication 9p; Obesity; X autosome translocation; Xp deletion

Indexed keywords

ARTICLE; AUTOSOME; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; OBESITY; PHENOTYPE; TRISOMY; X CHROMOSOME;

ADOLESCENT; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, PAIR 9; CHROMOSOMES, HUMAN, X; DNA; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MENTAL RETARDATION; NUCLEIC ACID HYBRIDIZATION; OBESITY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 25144505556     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2005.04.014     Document Type: Article

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