Partial monosomy 13q: Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age.Trisomy 9SelumetinibGenetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.William Lakin Turner: William Lakin Turner (25 February 1867 – 21 October 1936) was an English landscape artist.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Oncogene: An oncogene is a gene that has the potential to cause cancer.Wilbur, Beth, editor.Ring chromosome: A ring chromosome is a chromosome whose arms have fused together to form a ring. Ring chromosomes were first discovered by Lilian Vaughan Morgan in 1926.Refractory cytopenia with multilineage dysplasiaHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.James A. Schlipmann Melanoma Cancer Foundation: The James A. Schlipmann Melanoma Cancer Foundation is a US-based non-profit organization with a mission to fund clinical trials and research studies, and to advance education, awareness, screenings and treatment to eventually eradicate melanoma.
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