Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 333-337

  Tzschach, Andreas ^a   Menzel, Corinna ^a   Erdogan, Fikret ^a   Schubert, Marei ^a   Hoeltzenbein, Maria ^a   Barbi, Gotthold ^b   Petzenhauser, Christine ^c   Ropers, Hans Hilger ^a   Ullmann, Reinhard ^a   Kaischeuer, Vera ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Institute of Human Genetics   (Germany)

^c Practice of Gynecology   (Germany)

Author keywords

Chromosome translocation: Array CGH; Deafness; Deletion 7q21; DLX5; DLX6; Ectrodactyly; Mental retardation; SHFM1; Short stature; Split hand split foot malformation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6; CHROMOSOME 7Q; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DLX5 GENE; DLX6 GENE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENE LOCATION; GENE LOCUS; HEARING IMPAIRMENT; HUMAN; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; LIMB MALFORMATION; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SHFM1 GENE; SHORT STATURE; TILING PATH ARRAY COMPARATIVE GENOMIC HYBRIDIZATION;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; DEAFNESS; DWARFISM; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; MICROCEPHALY; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROTEASOME ENDOPEPTIDASE COMPLEX; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 33846821891     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31601     Document Type: Article

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