Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).
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.
Domínguez
María G
MG
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Ap. Postal 1-3838, Jalisco, Guadalajara, Mexico.
Wong-Ley
Luis E
LE
Rivera
Horacio
H
Vásquez
Ana I
AI
Ramos
Alma L
AL
Sánchez-Urbina
Rocío
R
Morales
J A
JA
Figuera
Luis E
LE
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