Duplication 5p Syndrome

Essential
It is feasible that the major title of the record Chromosome 5, Trisomy 5p is not the name you anticipated. Please check the words detailing to locate the alternative name(s) as well as disorder class(s) covered by this record.

Synonyms

  • trisomy 5p
  • chromosome 5, trisomy 5p, complete (5p11-ter), consisted of
  • chromosome 5, trisomy 5p, partial, included
  • dup(5p) syndrome
  • duplication 5p syndrome

Problem Subdivisions

  • None

General Conversation
Trisomy 5p is an unusual chromosomal condition in which all or a part of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) instead of twice in cells of the body. Frequently the copied section of 5p (trisomy) is because of an intricate rearrangement including various other chromosomes. These people have a variable phenotype relying on which chromosome is entailed, the size of the duplication and also whether there is loss of material from the same or another chromosome. There are rare cases with an isolated duplication of 5p. These individuals have much less variability. The variability that does show up is because of the size and location of the duplication. The people with only the duplication enable a far better description of the symptoms (phenotype) as well as interpretation of an important area for certain signs (heart irregularities and seizures). Lots of impacted infants and also youngsters have irregularities that consist of low muscular tissue tone (hypotonia); an uncommonly large head (macrocephaly) as well as additional irregularities of the head as well as face (craniofacial) location; long, slim fingers (arachnodactyly); delays in the purchase of abilities needing the coordination of psychological and physical activities (psychomotor retardation); and intellectual handicap. Some affected people could have heart flaws and seizures. Not all individuals with trisomy 5p will certainly have all of the signs and symptoms of the condition.

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