de novo inversion-duplication of 2q35-2qter without growth retardation.
A 7-year-old mentally retarded child was found to be the carrier of a de novo inversion-duplication of 2q35-2qter. His phenotype corresponded to that which is classically described in cases of partial trisomy of the long arm of chromosome 2; however, he did not show the growth retardation which usually characterizes this and other aneuploidy syndromes.
Dahoun-Hadorn
S
S
Département de Génétique et Microbiologie, CMU, Genève, Switzerland.
Bretton-Chappuis
B
B
D002648:Child; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D006128:Growth / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D005810:Multigene Family / Q000235:genetics*; D014314:Trisomy