A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
We describe a boy with an interstitial deletion of the proximal portion of chromosome 3q. Prominent physical characteristics were a dysmorphic face with apparent hypertelorism, signs of prenatal lymphedema, foot contractures and agenesis of the corpus callosum. The finding of corpus callosum agenesis in a previously reported patient with an overlapping deletion suggests an additional locus for this malformation.
Genuardi
M
M
Istituto di Genetica Medica, Facoltá di Medicina e Chirurgia A. Gemelli, Universitá Cattolica del Sacro Cuore, Rome, Italy.
Calvieri
F
F
Tozzi
C
C
Coslovi
R
R
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male