Trisomy 8q
MONDO:0015772Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size.
Also known as: Duplication 8q, trisomy type 8q, 8q duplication, 8q trisomy, chromosome 8q duplication, partial trisomy 8q
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
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Chromosomal disorder
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Disease of genetic or genomic mechanism
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Autosomal anomaly
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Chromosome 8 disorder
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Disease by etiologic mechanism
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Partial duplication of chromosome 8
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Partial duplication of the long arm of chromosome 8
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Syndrome caused by partial chromosomal duplication
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