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Definitions for "Germline mosaicism"
Keywords:  gonads, mosaicism, mutation, genetic, achondroplasia
Related Terms: Somatic mutation, Germline mutation, Somatic mutations, Mosaic, Maternal inheritance, Genetic mosaic, Hereditary mutation, Mosaicism, Autosomal dominant inheritance, Hemizygous, Sex-linked inheritance, Autosomal dominant, Sex-linked, X-linked, Autosomal recessive, Homozygote, Complementation, Sex linkage, Recessive inheritance, Autosomal recessive inheritance, Germline, Independent assortment, Homologous, Haploinsufficiency, Germ line, Dominant inheritance, Allelic exclusion, Homozygous, Allele, Dominant gene, Chimaera, Recessive gene, Single gene disorder, Genetic effects, Polygenic, Heterozygote, Alleles, Heritable, Polygenic inheritance, Monogenic, Genotype, Genetic linkage, Hereditary, Homozygosity, Mendelian inheritance, Heterozygous, Recessive, Mutant, Dominant
The presence of a gene mutation for a disease trait in some yet not all of an individual's sexual reproductive cells (germ cells) within the ovaries or testes (gonads). Germline mosaicism is sometimes suspected when parents have more than one child with a genetic disorder transmitted as a dominant trait yet neither parent appears to be affected by the condition.
dbs-stn.org
Two or more groups of germ cells in a single individual, with different genetic or chromosomal constitutions. If a parent has germline mosaicism in their gonads for a dominantly inherited condition, they will be unaffected by the condition, but may be at risk of having more than one affected child .
library.nhs.uk
the presence of reproductive cells (sperm or egg) of different genetic make-up. For example, an average-statured parent may some reproductive cells with the mutation for achondroplasia. This would give them a chance of having more than one child with achondroplasia.
medical.lpaonline.org
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