title: Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).
abstract: There have only been eight patients with 6p pure trisomy involving different segments: four cases resulted from a translocation or insertion and four were due to an intrachromosomal duplication. We report here the first postnatally ascertained patient with a pure 6p partial trisomy due to an interchromosomal insertion (16;6)(p12;p21.2p23)mat. This rearrangement was confirmed by fluorescent in situ hybridization (FISH) with whole chromosome 6 and 16 painting probes. The clinical findings in the present patient were similar to those observed in previous cases, including craniofacial dysmorphism, minor anomalies, and lack of severe anatomical defects; yet, the unspecificity of many of these features prevented us from delineating the 6p pure trisomy syndrome.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Jalisco, Guadalajara, Mexico.
authors.forename: María G
authors.initials: MG
authors.lastname: Domínguez
authors.forename: Luis E
authors.initials: LE
authors.lastname: Wong-Ley
authors.forename: Horacio
authors.initials: H
authors.lastname: Rivera
authors.forename: Ana I
authors.initials: AI
authors.lastname: Vásquez
authors.forename: Alma L
authors.initials: AL
authors.lastname: Ramos
authors.forename: Rocío
authors.initials: R
authors.lastname: Sánchez-Urbina
authors.forename: J A
authors.initials: JA
authors.lastname: Morales
authors.forename: Luis E
authors.initials: LE
authors.lastname: Figuera
mesh_terms: D002885:Chromosomes, Human, Pair 16; D002896:Chromosomes, Human, Pair 6; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy