Disability Paper RING 14
CHROMOSOME SYNDROMES 14
What is RING14 syndrome?
RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the long arm, which usually leads to a partial loss of the informative genetic materil of chromosome 14. The chromosomal abnormality can affect all cells or Mosaic with a cell line that has lost a complete chromosome 14.
Chromosomal aberration RING 14 is associated ith a number of recurrent signs and symptoms, which is why it causes a syndrome characterized by psychomotor retardation and multiple phenotypic abnormalities.
The diagnosis of RING …show more content…
For this reason the diagnosis can not be based on a simple chromosomal examination, but requires pecific tests of molecular genetics.
All conditions of the syndrome associated with structural or functional abnormalities of chromosome 14 are rare. However, it is feasible that their frequenc is underestimated, particularly in relation to RING syndrome 14. In fact, in RING syndrome 14, phenotypic abnormalities are generally mild and the growth delay is not marked or absent, so the indication of the chromosomal examination Can be escaped or be requested late.
Clinical and genetic characterization of all these conditions, possible only by comparative analysis of a wide variety of cases, will improve the knowledge in the same families and specialist doctors, and may also allow a more effective
CHROMOSOME SYNDROMES 14
What is RING14 syndrome?
RING 14 indicates an aberration with respect to chromosome 14, which takes the form of a ring as soon as its two extremities, the long arm and the short arm, fuse together. The fusion occurs through two ruptured events, one at the extremity of the short arm and the other at the end of the long arm, which usually leads to a partial loss of the informative genetic materil of chromosome 14. The chromosomal abnormality can affect all cells or Mosaic with a cell line that has lost a complete chromosome 14.
Chromosomal aberration RING 14 is associated ith a number of recurrent signs and symptoms, which is why it causes a syndrome characterized by psychomotor retardation and multiple phenotypic abnormalities.
The diagnosis of RING …show more content…
For this reason the diagnosis can not be based on a simple chromosomal examination, but requires pecific tests of molecular genetics.
All conditions of the syndrome associated with structural or functional abnormalities of chromosome 14 are rare. However, it is feasible that their frequenc is underestimated, particularly in relation to RING syndrome 14. In fact, in RING syndrome 14, phenotypic abnormalities are generally mild and the growth delay is not marked or absent, so the indication of the chromosomal examination Can be escaped or be requested late.
Clinical and genetic characterization of all these conditions, possible only by comparative analysis of a wide variety of cases, will improve the knowledge in the same families and specialist doctors, and may also allow a more effective