A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
We here report a boy presenting with developmental delay, growth retardation, facial dysmorphisms, vermis hypoplasia, micropolygyria and corpus callosum agenesis. Conventional and high resolution cytogenetic analyses were normal but high resolution oligonucleotide array-CGH, performed at the age of 4 years, allowed the characterisation of a de novo 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication. Numerous 1qter deletions have already been described associated with brain malformations. Among 1q44 deleted genes, AKT3 is the strongest candidate gene for vermis hypoplasia and corpus callosum agenesis.
Andrieux
Joris
J
Cuvellier
Jean-Christophe
JC
Duban-Bedu
Bénédicte
B
Joriot-Chekaf
Sylvie
S
Dieux-Coeslier
Anne
A
Manouvrier-Hanu
Sylvie
S
Delobel
Bruno
B
Vallee
Louis
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D006801:Humans; D008297:Male; D046228:Microarray Analysis; D008831:Microcephaly / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics; D017384:Sequence Deletion
C491754:AKT3 protein, human; D051057:Proto-Oncogene Proteins c-akt