The discovery took place in the laboratory of Raymond Turpin at the Hôpital Trousseau in Paris, France. Jérôme Lejeune and Marthe Gautier were both his students.As a result of this discovery, the condition became known as trisomy 21. Even before the discovery of its cause, the presence of the syndrome in all races, its association with older maternal age, and its rarity of recurrence had been noticed. Medical texts had assumed it was caused by a combination of inheritable factors that had not been identified. Other theories had focused on injuries sustained during birth. Society and culture
Name
Due to his perception that children with Down syndrome shared facial similarities with those of Blumenbachs Mongolian race, John Langdon Down used the term "mongoloid". He felt that the existence of Down syndrome confirmed that all peoples were genetically related. In the 1950s with discovery of the underlying cause as being related to chromosomes, concerns about the race-based nature of the name increased.In 1961, a group of nineteen scientists suggested that "mongolism" had "misleading connotations" and had become "an embarrassing term". The World Health Organization (WHO) dropped the term in 1965 after a request by the delegation from the Mongolian Peoples Republic. While the term mongoloid (also mongolism, Mongolian imbecility or idiocy) continued to be used until the early 1980s, it is now considered unacceptable and is no longer in common use.In 1975, the United States National Institutes of Health (NIH) convened a conference to standardize the naming and recommended replacing the possessive form, "Downs syndrome" with "Down syndrome".
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited disorder. Presentation
The primary manifestations are thrombocytopenia and megakaryocytopenia, or low numbers of platelets and megakaryocytes. There is an absence of megakaryocytes in the bone marrow with no associated physical abnormalities. Cause
The cause for this disorder appears to be a mutation in the gene for the TPO receptor, c-mpl, despite high levels of serum TPO. In addition, there may be abnormalities with the central nervous system including the cerebrum and cerebellum which could cause symptoms. Diagnosis
Treatment
The primary treatment for CAMT is bone marrow transplantation.Bone Marrow/Stem Cell Transplant is the only thing that ultimately cures this genetic disease. Frequent platelet transfusions are required to ensure that platelet levels do not fall to dangerous levels, although this is not always the case. It is known for patients to continue to create very small numbers of platelets over time. See also
Thrombopoietin
Myeloproliferative leukemia virus oncogene

References
External links
Amegakaryocytic Thrombocytopenia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)