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Additionally, platelet antigen genotyping can be performed on the maternal and paternal blood to determine the exact nature of the incompatibility. [citation needed] Neonatal platelet counts on laboratory testing are typically under 20,000 μL −1. Higher counts may suggest a different diagnosis, such as maternal immune thrombocytopenic ...
The disease results when maternal antibodies to Kell 1 are transferred to the fetus across the placental barrier, breaching immune privilege. These antibodies can cause severe anemia by interfering with the early proliferation of red blood cells as well as causing alloimmune hemolysis. Very severe disease can occur as early as 20 weeks gestation.
Maternal (top) and paternal (bottom) nondisjunction leading to trisomy X [32] [33] Trisomy X, like other aneuploidy disorders, is caused by a process called nondisjunction . Nondisjunction occurs when homologous chromosomes or sister chromatids fail to separate properly during meiosis , the process that produces gametes (eggs or sperm), and ...
Normally, a fetus inherits an imprinted maternal copy of PW genes and a functional paternal copy of PW genes. Due to imprinting, the maternally inherited copies of these genes are virtually silent, and the fetus therefore relies on the expression of the paternal copies of the genes.
Occasionally it is due to the inheritance of two copies of chromosome 15 from the father and none from the mother (paternal uniparental disomy). [6] As the father's versions are inactivated by a process known as genomic imprinting, no functional version of the gene remains. [6] Diagnosis is based on symptoms and possibly genetic testing. [7]
Due to this variation, genetic testing is the only way to reliably make a diagnosis. [11] [12] [13] [6] 46,XX/46,XY is possible if there is direct observation of one or more of the following: Small phallus midway in size between a clitoris and a penis [6] Incompletely closed urogenital opening (shallow vagina) [6] Abnormal urethra opening on ...
[11] [12] Eight years later in 1988, the first clinical case of UPD was reported and involved a girl with cystic fibrosis and short stature who carried two copies of maternal chromosome 7. [13] Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons.
Acute megakaryoblastic leukemia (AMKL) is life-threatening leukemia in which malignant megakaryoblasts proliferate abnormally and injure various tissues. Megakaryoblasts are the most immature precursor cells in a platelet-forming lineage; they mature to promegakaryocytes and, ultimately, megakaryocytes which cells shed membrane-enclosed particles, i.e. platelets, into the circulation.