title: Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies.
abstract: We describe two malformed infants with trisomy 6p12.1-p22.1 due to 12/6 interchromosomal insertion. The phenotypic data observed in these patients are compared chiefly with a case cytogenetically similar described by Villa et al. [A. Villa, E.G. Gomez, L. Rodriguez, R.H. Rastrollo, M.E. Martinez Tallo, M.L. Martinez-Frias, Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3), Am. J. Med. Genet. 90 (2000) 369-375]. All three infants are trisomic for a genomic segment which largely overlaps that reported as duplicated in previous cases, but with the addition of a more proximal segment, extending from 6p12 to 6p21. We suggest that some of their phenotypic anomalies are due to the trisomy of this chromosomal region. We also speculate on the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.
authors.affiliation: Clinical Genetics, Department of Biomedical Sciences, University of Sassari, Viale S. Pietro 43/C, 07100 Sassari, Italy. gfogu@uniss.it
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Fogu
authors.forename: Pasquale
authors.initials: P
authors.lastname: Bandiera
authors.forename: Francesca
authors.initials: F
authors.lastname: Cambosu
authors.forename: Anna Rita
authors.initials: AR
authors.lastname: Carta
authors.forename: Laura
authors.initials: L
authors.lastname: Pilo
authors.forename: Gigliola
authors.initials: G
authors.lastname: Serra
authors.forename: Giovanna
authors.initials: G
authors.lastname: Soro
authors.forename: Massimo
authors.initials: M
authors.lastname: Tondi
authors.forename: Gianni
authors.initials: G
authors.lastname: Tusacciu
authors.forename: Andrea
authors.initials: A
authors.lastname: Montella
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D016254:Mutagenesis, Insertional; D050656:Transcription Factor AP-2 / Q000235:genetics*; D014314:Trisomy
chemical_list: C493677:TFAP2B protein, human; D050656:Transcription Factor AP-2