Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.
Dallapiccola
Bruno
B
IRCCS Casa Sollievo della Sofferenza-Mendel Institute, Rome, Italy. dallapiccola@css-mendel.it
Bernardini
Laura
L
Novelli
Antonio
A
Mingarelli
Rita
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002881:Chromosomes, Human, Pair 12; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D020440:Gene Duplication; D015894:Genome, Human; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*
D004247:DNA