Trisomy 14 Mosaicism Syndrome

Essential
It is feasible that the major title of the report Chromosome 14, Trisomy Mosaic is not the name you anticipated. Please inspect the words providing to discover the alternating name(s) and disorder neighborhood(s) covered by this record.

Words

  • Trisomy 14 Mosaic
  • Trisomy 14 Mosaicism Syndrome

Problem Neighborhoods

  • None

General Discussion
Chromosome 14, Trisomy Mosaic is an unusual chromosomal problem in which chromosome 14 appears 3 times (trisomy) instead of twice in some cells of the physical body. The term “mosaic” indicates that some cells include the additional chromosome 14, whereas others have the regular chromosomal set.

The disorder might be identified by growth delays prior to birth (intrauterine development retardation); failing to grow and also put on weight at the anticipated price (failing to grow) throughout infancy; delays in the acquisition of skills needing the coordination of psychological and also physical capabilities (psychomotor delays); and also mental deficiency. Impacted infants additionally have unique abnormalities of the head as well as face (craniofacial) region, such as a prominent forehead; deeply set, widely spaced eyes; a wide nasal link; and low-set, malformed ears. Extra craniofacial abnormalities could include an unusually tiny lower mandible (micrognathia); a huge mouth and thick lips; and also incomplete closure or abnormally high arching of the roofing of the mouth (palate). Lots of affected babies also have structural malformations of the heart (e.g., tetralogy of Fallot). In some cases, additional physical irregularities might likewise exist.

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