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XLI can also occur in the context of larger deletions causing contiguous gene syndromes.
A contiguous gene syndrome is a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome.
(1986) Contiguous gene syndromes: A component of recognizable syndromes.
The deletions in 7q can result in a contiguous gene syndrome that includes growth impairment, microcephaly, craniofacial manifestations, hernias, hearing loss, and mental retardation.
MDS is a contiguous gene syndrome as well, which is a disorder due to the deletion of multiple gene loci that are adjacent to one another.
PTLS was the first predicted reciprocal of a homologous recombination (microdeletion or microduplication) where both reciprocal recombinations result in a contiguous gene syndrome.
The pigmentation defects observed in PWS and AS constitute one component of these contiguous gene syndromes, independent of the primary, imprinted genetic element(s) that result in the major clinical features of these syndromes.
This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome.