Opposite imbalances of distal 14q in two unrelated patients.
Two unrelated children were found to have de novo opposite imbalances for distal 14q. One had a 46,XY, del(14)(q24q32) karyotype and exhibited, like three other patients with similar deletions, a distinctive facial appearance including round face, frontal hypertrichosis, thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat root, and mild micrognathia. The other had a 46,XX, dir dup(14)(q22----q32) karyotype and stigmata common to patients with comparable duplications, namely high forehead, sparse eyebrows, prominent overlip, gingival hypertrophy, and overriding fingers. Therefore, it is concluded that each of these imbalances originates a distinct syndrome.
Rivera
H
H
División de Genética, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco.
Ramirez-Dueñas
M L
ML
Figuera
L E
LE
Gonzalez-Montes
R M
RM
Vasquez
A I
AI
D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D005145:Face / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome