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Alpha thalassaemia / mental retardation (ATR- 16) syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

alpha-thalassemia/mental retardation (ATR) syndromes (ATR-16 Syndrome)

  • this condition is also one where mental retardation is found in children with alpha thalassemia (1)
  • associated with deletion of part of chromosome 16 short-arm (16p) telomere (1)
  • associated with varied phenotype of other developmental abnormalities (1)
  • in some, the chromosomal abnormalities can be visualized by cytogenetic analysis or fluorescent in situ hybridization (FISH)
    • in most cases, one parent carried a balanced translocation that the child inherited in an unbalanced fashion. In others, the abnormality arose as de novo events. If the affected child also inherited a common single alpha globin gene deletion from the other parent, the child would have Hb H disease

Notes:

  • thought that mental retardation and other congenital anomalies observed in this syndrome are caused by the deletion of dosage-sensitive genes on one 16p telomere and other concomitant chromosomal abnormalities
  • ATR-X syndrome
    • this syndrome is an X-linked disorder, caused by mutations of theATRX gene located on chromosome Xq13.3

Reference:


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