Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 546-548

  Dallapiccola, Bruno ^a,b   Bernardini, Laura ^a   Novelli, Antonio ^a   Mingarelli, Rita ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CHROMOSOME 12Q; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEVELOPMENTAL STAGE; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HEMIZYGOSITY; HUMAN; KARYOTYPE; LETTER; PATIENT ASSESSMENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOMES, HUMAN, PAIR 12; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DNA; FEMALE; GENE DUPLICATION; GENOME, HUMAN; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; WOLF-HIRSCHHORN SYNDROME;

EID: 61749103619     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32695     Document Type: Letter

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