1q43 duplication

Also known as

  • Trisomy 1q43

Duplications including 1q43 involve having extra material on one of the body’s 46 chromosomes. Generally speaking, having extra chromosome material increases the chance of problems such as birth defects and growth and developmental delay. With 1q duplications the picture depends on exactly what chromosome material is duplicated and whether any material has been lost or duplicated on another chromosome as well.

Condition details

Exact features an individual has vary considerably. Overall, some degree of learning difficulty appears to be common but it may be minor, and many people have no major health concerns. Trisomy 1q43 syndrome has been described in the medical literature as involving developmental delay, large head size and heart anomalies at birth. Other features reported with duplications involving 1q43 include: Early tooth loss starting in teenage years and toothless by 40s. ideopathic allergic reactions and skin rashes of various kinds. Abnormal brain scan (EEG). Eye problems including squint and small eyes, rarely legal blindness in one or both eyes. Spatial disorientation, which can be severe. Abnormal posturography with eyes open and normal with eyes closed. Asymmetric jaw and skull. Difficulties with number work, writing and drawing. Intellectual strengths in certain areas. Difficulty arranging language, thoughts, information and actions effectively. Trouble processing body sensations.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Baby
Lay terms Clinical terms
  • never crawled
  • big head
  • heart problems
  • Macrocephaly
  • Congenital cardiac anomolies
Toddler
Lay terms Clinical terms
  • walked late talked late
  • motor delay
  • speech delay
Child 4-10
Lay terms Clinical terms
  • difficulty writing with pen/drawing.... poor arithmetic skills difficult following instructions pains in legs/arms particularly in cold weather many skin rashes falling down repeatedly clumsy
  • dysgraphia dyscalculia sequencing problems

Affected genes identified to date

  • .

Inheritance patterns

Is Autosomal dominant

An individual with a 1q43 duplication has a 1 in 2 or 50% chance of passing this on to each child they have.

Are carriers affected?

When someone is a carrier of a balanced chromosome translocation involving chromosome 1, this generally does not cause them any health problems as there is no loss or gain of genetic material. The main implications are for when they have children.

How many are affected?

Duplications involving 1q43 are very rare Often no-one else has been described with exactly the same amount of duplicated material. Unique (UK support group for rare chromosome disorders) has reported 32 cases of duplications around 1q43. (2005)

Support groups and organisations

Unique The Rare Chromosome Disorder Support Group
G1 The Stables
Station Road West
Oxted
Surrey
RH8 9EE
UK
Tel 01883 723356
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