title: Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3).
abstract: A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged to chromosome 6. Although it has been suggested that 6p25 is the critical band involved in the expression of the phenotype of 6p duplication, comparison of the clinical findings of this case with those from the literature cases showed strong similarities.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: E G
authors.initials: EG
authors.lastname: Gomez
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez
authors.forename: R H
authors.initials: RH
authors.lastname: Rastrollo
authors.forename: M E
authors.initials: ME
authors.lastname: Martínez Tallo
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D020223:Chromosome Painting; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D020440:Gene Duplication; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D020080:Tandem Repeat Sequences; D014314:Trisomy