Syndrome ATR 16
The syndrome ATR 16 or syndrome délétion 16P is a disease in connection with a Délétion of the arm court of the Chromosome 16. This délétion reaches genes HBA1 and HBA2 responsible for the Thalassémie alpha.
The Phénotype includes/understands, in addition to the manifestations of hemoglobin H (weakens haemolytic microcytaire with ictère, hepatomegaly, splénomégalie), a Microcéphalie with Backwardness. The attack of the Gène SOX8 would explain the backwardness.
This phenotype is similar to the Thalassémie alpha related to X with backwardness but these diseases are genetically completely different.
Sources
- Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 141750