Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies

European Journal of Medical Genetics

Volumn 50, Issue 2, 2007, Pages 103-111

  Fogu, Giuseppina ^a   Bandiera, Pasquale ^a   Cambosu, Francesca ^a   Carta, Anna Rita ^a   Pilo, Laura ^a   Serra, Gigliola ^a   Soro, Giovanna ^a   Tondi, Massimo ^a   Tusacciu, Gianni ^a   Montella, Andrea ^a  

^a UNIVERSITY OF SASSARI   (Italy)

Author keywords

FISH; Interchromosomal insertion; Partial trisomy 6p; TFAP2B

Indexed keywords

ARTICLE; CHROMOSOME 6P; CHROMOSOME REPLICATION; FAMILIAL DISEASE; FEMALE; GENE DUPLICATION; GENE INSERTION; GENE MAPPING; GENETIC TRANSCRIPTION; GENOMICS; HUMAN; INFANT; MALE; MALFORMATION SYNDROME; PARTIAL TRISOMY; PARTIAL TRISOMY 6P; PHENOTYPE; PRESCHOOL CHILD; TANDEM REPEAT;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; FATAL OUTCOME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MUTAGENESIS, INSERTIONAL; TRANSCRIPTION FACTOR AP-2; TRISOMY;

EID: 33947142897     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2006.11.002     Document Type: Article

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