Autosomal Information and Courses from MediaLab, Inc.
These are the MediaLab courses that cover Autosomal and links to relevant pages within the course.
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| Serum calcitonin is typically elevated in which of the following conditions: | View Page |
| The WBC indicated by the arrow in this illustration is exhibiting: | View Page |
| The WBC anomaly indicated by the arrow in this illustration is: | View Page |
| The cell indicated by the arrow in illustration is indicative of: | View Page |
| Pelger-Huet anomaly is characterized by: | View Page |
| Pelger-Huet Anomaly Pelger-Huet anomaly is the inherited form of neutrophilic hyposegmentation. Its transmittance is autosomal dominant and the anomaly is present in one out of 6000 people. When present, all of the neutrophils will be hyposegmented; however, the homozygous state will have increased number of cells with singular round nucleus and decreased numbers of the bilobed forms. | View Page |
| May-Hegglin Bodies May-Hegglin anomaly is an autosomal dominant condition characterized by the presence of pale blue inclusions in neutrophils, giant platelets, and sometimes thrombocytopenia.
Inclusions can also occur in eosinophils, basophils, and monocytes.
May-Hegglin inclusions resemble Dohle bodies but are larger and more prominent.
Acquired forms of this anomaly may also occur as a result of the use of cytotoxic drugs. May-Hegglin bodies seen under these circumstances are considered pathological. | View Page |
| Chediak-Higashi Chediak-Higashi syndrome is a rare autosomal recessive disorder. It results from a mutation of the gene LYST which encodes a protein with multiple phosphorylation sites. This defect causes a cellular abnormality involving the fusion of cytoplasmic granules. Early in neutrophil maturation normal azurophilic granules form, but they fuse together to form megagranules. Later during the myelocyte stage, normal specific granules form. The mature neutrophils contain both normal specific granules and abnormal azurophilic granules.
These large abnormal granules can be seen in the cytoplasm of neutrophils, eosinophils, basophils, monocytes and lymphocytes.
These abnormal granules are able to kill bacteria in neutrophils and monocytes; however, the process is much less effective than in normal cells in part, because these neutrophils have impaired locomotion. For these reasons, individuals with Chediak-Higashi have recurrent infections.
An accelerated lymphoma-like phase occurs, with lymphadenopathy, hepatosplenomegaly, and pancytopenia. Death often occurs at an early age.
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| Alder-Reilly Anomaly (Alder's Anomaly) Alder Reilly Anomaly is a rare autosomal recessive hereditary disorder in which the basic defect involves protein-carbohydrate complexes called mucopolysaccharides. The accumulation of partially degraded (broken down) protein-carbohydrate complexes within the lysosomes account for the larger than normal purple-staining granules seen in the granulocytes, monocytes and/or lymphocytes.
The granules may occur in clusters, rather than diffusely, throughout the cytoplasm as in toxic granulation.
These inclusions may be seen in the bone marrow more frequently than in peripheral blood. The physical characteristics associated with this disorder include gargoylism and dwarfism.
The function of the cells involved is not affected.
This morpholical change would be classified as pathological since the body is responding abnormally even though the function is not affected. | View Page |
| The combination of neutrophil cytoplasmic inclusions(see upper photograph) and giant platelets (lower photograph) are found in each of the following conditions except: | View Page |
| Familial disorders: summary Several additional familial and congenital disorders associated with atypical inclusions in WBCs are now recorded. These individual syndromes carry the following names: Fechtner, Alport, Epstein, Sebastian, and Paris-Trousseau.Fechtner syndrome( Peterson etal,Blood 65:397-406,1985)was described with 8 family members spanning 4 generations presenting with varying degrees of nephritis, deafness,and congenital cataracts. The syndrome is likely a variant of Alport syndrome with the addition of leukocyte inclusions and macrocytothemia. Several more cases involving other families have been reported. The inclusions resemble toxic Doehle bodies or those of the May-Hegglin anomaly by light microscopy, but are ultrastructurally unique.Alport syndrome in itself is autosomal dominant, X-linked , hereditary and characterized by sensorineural deafness and hereditary nephritis. It is believed to result from abnormal glycopeptide synthesis in renal basement membranes. Recurrent hematuria and slowly progressive renal insufficiency are clinical findings. Cataracts and platelet abnormalities may be added features.Epstein syndrome is essentially Alport syndrome with the addition of macrothrombocytopenia (Seri, et al. Hum Genet 110:182-186, 2002). Neutrophil inclusions are absent in this disorder; neutrophilic inclusions are considered part of the Fechtner syndrome. The Sebastian platelet syndrome is a variant of hereditary macrothrombocytopenia combined with neutrophil inclusions that differ from Doehle bodies, but are similar to those inclusions in Fechtner syndrome. (Greinacher, et al, Blut 61:282-288, 1990).Paris-Trousseau syndrome includes large platelets containing giant alpha granules identifiable in the peripheral blood.(Breton-Gorius, Blood 85:1805,1995) | View Page |
| Chediac-Higashi anomaly In 1952 Chediak (a Cuban physician) reported a childhood disorder in which abnormal cytoplasmic inclusions appeared in the neutrophils of four family members. In 1954 Higashi reported a similar abnormality in an 11-month old Japanese infant. These inclusions were identified as lysosomal in origin and found in this rare autosomal recessive disorder Death was usually related to recurrent infections or hemmorhage though now some of the affected patients live to reproduce. Ocular and cutaneous albinism, increased susceptibility to pyogenic infections, abnormal granules in neutrophils, and a bleeding tendency are prominent findings. The striking neutrophilic inclusions appear as coarse intra-cytoplasmic azurophilic granules (see photograph).These granules arise from dilated portions of the Golgi-endoplasmic reticulum lysosomal apparatus. Aleutian mink and other animals are known to have Chediak-Higashi syndrome. Azurine pelts from infected mink were once prized by coat makers. | View Page |