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Disease: Chromosome 14q- terminal duplication

  • A paternally derived inverted duplication of distal 14q with a terminal 14q deletion
  • Chromosome duplication (14q) and the genotype phenotype correlation
  • Chromosomes and causation of human cancer and leukemia. XLVIII. T-cell acute leukemia in ataxia telangiectasia
  • Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication
  • Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report
  • Prenatal diagnosis of partial trisomy 3q (3q27.3→qter) and partial monosomy 14q (14q31.3→qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints
  • Rearrangement of chromosome 14q with associated white matter disease
  • Recombinant chromosome 14 due to maternal pericentric inversion
  • Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q
  • The ring 14 syndrome
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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