Partial trisomy of chromosome 14: (+14q-).
Partial trisomy 14 as a 47, + 14q- karyotype is compatible with life and this state is distinguished on cytogenetic, not clinical, grounds. Clinical features are nonspecific and these children are most obvious because of growth and mental retardation. This extends and broadens the indications for chromosome analysis. The significance of finding a +14q- karyotype must, however, be considered in the knowledge that ESA fragments have been associated with disorders that do not have a chromosome aberration pathogenesis. A balanced translocation should always be sought in parents of affected children. Finally, the proximal long arm of chromosome 14 apparently has at least 2 sites of relative fragility: 14q12 in vitro and 14q22 in vivo. Blood group analyses have been uninformative (2, 5).
D002901:Chromosomes, Human, 13-15; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy