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Chromosome 10, Distal Trisomy 10q

Abstract

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NORD is very grateful to Kory Keller, MS, CGC, Genetic Counselor, Oregon Health and Sciences University, for assistance in the preparation of this report.

Synonyms of Chromosome 10, Distal Trisomy 10q

  • chromosome 10, partial trisomy 10q24-qter
  • chromosome 10, trisomy 10q2
  • distal duplication 10q
  • distal trisomy 10q syndrome
  • dup(10q) syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 10, distal trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth (prenatal and postnatal growth retardation); abnormally diminished muscle tone (hypotonia); mild to severe mental retardation; and mild to severe delays in the acquisition of skills requiring coordination of mental and muscular activities (psychomotor retardation). Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents.

Organizations related to Chromosome 10, Distal Trisomy 10q

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