Germline duplication of chromosome 2p and neuroblastoma.

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

A Rare Case of Duplication of Chromosome 2 (q31.3q36.3) in a 4.5-year-old Boy and Review of the Literature

De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...

Genetic heterogeneity of gingival fibromatosis on chromosome 2p.

Gingival fibromatosis (GF) occurs in several genetic forms as a simple Mendelian trait, in malformation syndromes, and in some chromosomal disorders. Specific genes responsible for GF have not been identified. An autosomal dominant form of hereditary gingival fibromatosis (HGF, MIM 135300) was recently mapped to chromosome 2p21 in a large Brazilian family and there was an earlier report of GF i...

Molecular Markers in Neuroblastoma

Neuroblastoma, one of the common malignant childhood tumors, arises from neuroblast cells derived from theneural crest and destined for the adrenal medulla and the sympathetic nervous system and shows remarkable biologicalheterogeneity, resulting in favorable or unfavorable outcomes. Some tumors make rapid progress with a fataloutcome. In other instances, the tumors regress spontaneously in inf...

Partial monosomy 2p and partial trisomy 4q due to paternal translocation t(2;4)(p25.1;q31.3).

Clinical features in patients with segmental aneuploidy often vary depending on the size of the chromosomal segment involved. Monosomy 2p is usually observed as a part of more complex syndromes among probands of balanced reciprocal translocation carriers. Patients with dup4q syndrome have variable clinical features, which are both related to the size of duplicated segment of the 4q and specific...