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Topic: Gonadal mosaicism

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	Mosaic (genetics) - Wikipedia, the free encyclopedia
		In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder.
		Mosaicism may result from a mutation during development which is propagated to only a subset of the adult cells.
		This is when a part of the gonadal cells of an organism have different genotype than the rest of the cells, usually because of a mutation that occurred in an early stem cell that gave rise to a part or all of the gonadal tissue.
	en.wikipedia.org /wiki/Mosaicism (957 words)

	Mosaicism
		Additional causes of mosaicism include the development of a new mutation during the early embryonic growth of a fetus and a situation where two embryos grow to be one fetus or exchange cells.
		When mosaicism results from mutation during embryonic or fetal growth, one part of the body may have signs or symptoms of disease, while another part of the body may be normal.
		For gonadal mosaicism of other genetic diseases (such as single gene disorders), the test is the same as if the genetic change was present in 100% of cells.
	www.rwjobgyn.com /Atoz/Encyclopedia/article/001317.asp (985 words)

	- Northwestern Memorial Hospital - Chicago
		When mosaicism results from mutation during embryonic or fetal growth, one part of the body may have signs or symptoms of a genetic disease, while another part of the body may be normal.
		For gonadal mosaicism that could cause a genetic disease in the offspring (such as a single gene disorder), the appropriate tests are the same as if the genetic change was present in 100% of the cells.
		One complication of gonadal mosaicism is that it becomes very difficult to give specific statistical probabilities of a child being affected by a genetic disease because the percentage of affected sex cells is unknown.
	www.nmh.org /nmh/adam/adamencyclopedia/HIEArticles/001317.htm (1031 words)

	Mosaicism - Evanston Northwestern Healthcare (Site not responding. Last check: 2007-10-11)
		Mosaicism refers to a condition where an individual has two or more cell populations that differ in genetic makeup.
		Mosaicism occurs as a result of an error in cell division very early in fetal development.
		Patients with mosaicism may require less intense treatment than those with the typical form of the disease (with 100% of their cells affected), because they may be more mildly affected (only some of their cells are abnormal).
	www.enh.org /healthandwellness/encyclopedia/ency/article/001317.aspx (549 words)

	MoSt GeNe/Genetic Drift/Nontraditional Inheritance/Intro & Mosaicism
		Mosaicism is the term used to describe the contribution of two or more genotypes to the structure and function (i.e.
		There are now well documented cases of gonadal mosaicism for dominant mutations in what would otherwise have been considered as recessively inherited cases of skeletal dysplasias, connective tissue disorders, and a few chromosomal aberrations.
		Researchers analyzing changes in the dystrophin gene that cause this disorder report gonadal mosaicism in 15 to 25% of families in which they have tracked mutations to their origins.
	www.mostgene.org /gd/gdvol10a.htm (1257 words)

	Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism: Case Report -- Engel et al. 16 (1): ... (Site not responding. Last check: 2007-10-11)
		that maternal gonadal mosaicism was the cause for the increased
		), maternal gonadal mosaicism is not readily amenable to
		Stavropoulos, D.J., Bick, D. and Kalousek, D.K. (1998) Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism.
	humrep.oxfordjournals.org /cgi/content/full/16/1/63 (1761 words)

	The Ehlers-Danlos National Foundation - What does Mosaic or Mosaicism mean? (Site not responding. Last check: 2007-10-11)
		Mosaicism denotes the presence of two populations of cells in one patient, where usually one of the two is affected by a genetic disorder.
		Germline mosaicism denotes two or more genetic or cytogenetic cell lines confined to the precursor (germline) cells of the egg, or sperm; formally called gonadal mosaicism.
		Somatic mosaicism denotes two or more genetic or cytogenetic cell lines within the cell of the body (may or may not include the germline cells).
	www.ednf.org /medical/content/view/290/127 (169 words)

	gonadal mosaicism (Site not responding. Last check: 2007-10-11)
		Studies indicate that gonadal mosaicism may be responsible for such unusual pedigrees.
		Gonadal mosaicism results from a mutation that occurs postzygotically during early (embryonic) development.
		If the mutation affects only cells destined to form the gonads, the gametes carry the mutation, but the somatic cells of the individual are completely normal.
	www.humpath.com /article.php3?id_article=8561 (219 words)

	Rare Pediatric Disease Database (Site not responding. Last check: 2007-10-11)
		This type of inheritance is called gonadal (sex cell) mosaicism because it happens when a mutation occurs in a parent’s sperm or egg cells.
		These parents with gonadal mosaicism usually do not show any signs of a genetic disease because only their sperm or egg carry the mutation.
		This type of mosaicism is caused by the acquisition of additional chromosomal material during the early embryonic development of the fetus.
	www.madisonsfoundation.org /content/3/1/display.asp?did=264 (826 words)

	Ask The Doctor Answers: Recurrence Rate 2 (Site not responding. Last check: 2007-10-11)
		It is not zero because of the very rare occurrence of something called gonadal mosaicism in one of the parents.
		This is an entity in which the individual is carrying the mutated dominant gene in some of his or her gonadal cells (sperm or egg respectively) with all of the rest of the gonadal cells being "normal" (not carrying the mutated gene for CdLS).
		The initial diagnosis of CdLS was due to the gonadal cell carrying the change prior to conception, rather than the change occurring at conception from a single gonadal cell like MOST of the affected individuals.
	www.cdlsusa.org /askthedoctor/answers/recurrence2.html (484 words)

	NONTRADITIONAL PATTERNS OF INHERITANCE (Site not responding. Last check: 2007-10-11)
		What at first appeared to be a recessive trait, was in reality a dominant trait due to gonadal mosaicism in the father.
		As his gonads were involved, he passed the NF gene on to his children who were in turn fully affected.
		Mosaicism or two cell populations are probably more common than assumed.
	www.usd.edu /med/som/genetics/curriculum/1HNONTR6.htm (1707 words)

	Mosaicism, Tortie Tomcats and Genetically Impossible Kittens
		Somatic mosaicism the presence of genetically distinct populations of somatic cells in a given organism due to DNA mutations/damage or chromosome abnormalities.
		Germ-line mosaicism a particular mutation early in the development of an embryo means that, later in life, some of the egg or sperm cells will carry the mutated gene which can be passed on to offspring.
		Somatic mosaicism and chimerism aren't restricted to red or red-and-white cats; it's just that we are more geared up to looking for elusive fertile tortoiseshell males and tend to overlook the fact that some apparently normal tortoiseshell females may be due to genetic abnormalities.
	www.messybeast.com /mosaicism.htm (10926 words)

	Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) ... (Site not responding. Last check: 2007-10-11)
		Gonadal mosaicism, observed in the sperm of a patient, was particularly important, with expanded alleles ranging from 42 to >155 CAG repeats.
		Direct evidence of somatic and gonadal mosaicism was obtained by Genescan analysis of blood and sperm DNA from a 34-year-old male patient (Fig.
		Gonadal mosaicism is, however, greater in SCA7 than in the other analyzed neurodegenerative diseases associated with a translated CAG repeat.
	hmg.oxfordjournals.org /cgi/content/full/7/2/165 (5070 words)

	Gonadal mosaicism for incontinentia pigmenti in a healthy male -- Kirchman et al. 32 (11): 887 -- Journal of Medical ...
		Gonadal mosaicism for incontinentia pigmenti in a healthy male -- Kirchman et al.
		Gonadal mosaicism for incontinentia pigmenti in a healthy male
		the father is a gonadal mosaic for the IP mutation.
	jmg.bmjjournals.com /cgi/content/abstract/32/11/887 (233 words)

	VHL Mosaicism
		Mosaicism may explain why a DNA mutation can not be detected in a person who has VHL tumors and cysts, or why unaffected parents may have one or more affected children.
		But because the gonads are affected, a portion of this person’s eggs or sperm have a mutated copy of the VHL gene.
		Estimates about the frequency of mosaicism in specific autosomal dominant conditions are based on observation of disease occurrence in families and by laboratory analysis of available tissues.
	www.vhl.org /newsletter/vhl2000/00bamosa.htm (2959 words)

	Segmental neurofibromatosis
		Gonadal mosaicism is thought to be responsible for reports of patients with localized disease having children with generalized NF [1, 2].
		Vertical transmission of segmental NF has also been reported although the mode of inheritance is unclear and not easily explained by gonadal mosaicism [1].
		Segmental NF initially was classified as NF type V and defined as café-au-lait macules or neurofibromas in a single, unilateral segment of the body, with no crossing of the midline, no familial history, and no systemic involvement [3].
	dermatology.cdlib.org /114/NYU/NYUtexts/1116041.html (642 words)

	NYU SoM - Dept. of Dermatology
		Gonadal mosaicism is thought to be responsible for reports of patients with localized disease having children with generalized NF.
		Segmental NF initially was classified as NF type V and defined as café-au-lait macules and/or neurofibromas in a single, unilateral segment of the body, with no crossing of the midline, no familial history, and no systemic involvement.
		The clinical and diagnostic implications of mosaicism in the neurofibromatoses.
	www.med.nyu.edu /dermatology/sem_conf/111604-1.html (644 words)

	Trisomy 16 mosaicism (Site not responding. Last check: 2007-10-11)
		That is, an error in maternal meiosis leads to a trisomy 16 conceptus, with the diploid cell line arising during development through the mechanism of trisomic rescue.
		Post-natal follow-up of prenatally diagnosed trisomy 16 mosaicism
		(1998) Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism.
	www.medgen.ubc.ca /wrobinson/mosaic/trisomy16.htm (1819 words)

	Familial Sex Reversal: A Review -- Sarafoglou and Ostrer 85 (2): 483 -- Journal of Clinical Endocrinology & Metabolism
		B, Mutations in the SRY, SOX9, SF1, and WT1 genes are associated with 46,XY gonadal dysgenesis, as are deletions of chromosome 2q, 9p, and 10q, and duplication of chromosome Xp21.
		mutations in autosomal or X-linked genes, and gonadal mosaicism
		1994 Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.
	jcem.endojournals.org /cgi/content/full/85/2/483 (4927 words)

	Piecing together the puzzle of cutaneous mosaicism -- Paller 114 (10): 1407 -- Journal of Clinical Investigation
		Epidermal nevi are examples of cutaneous mosaicism in which the localized thickening of the epidermis is patterned along the lines of Blaschko.
		Genetic and clinical mosaicism in a type of epidermal nevus.
		Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
	www.jci.org /cgi/content/full/114/10/1407 (1534 words)

	Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation ...
		21 from abnormal segregation of translocation chromosomes or mosaicism
		Couple 1 (gonadal mosaicism for trisomy 21): (A) normal for chromosome 21 (two red, two green), (B) monosomy 21 (one red, one green), (C) trisomy 21 (three red, three green).
		Mosaicism of autosomes and sex chromosomes in morphologically normal monospermic preimplantation human embryos.
	jmg.bmjjournals.com /cgi/content/full/36/1/45 (4098 words)

	The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal ... (Site not responding. Last check: 2007-10-11)
		Pathognomonic sectorial cataract in the grandmother (I2) of family 1 suggesting together with short stature somatic mosaicism.
		the presence of gonadal mosaicism in a parent.
		Gonadal mosaicism in a parent is the most likely
	hmg.oxfordjournals.org /cgi/content/full/9/13/1951 (2385 words)

	[No title]
		There are two other possibilities: (1) Such a rearrangement could also have occurred during a premeotic mitosis resulting in a gonadal mosaicism and, if this would be the case, an increased risk for recurrence would apply.
		In such instances, where there is a biparental rearrangement, even the very small risk otherwise associated with parental gonadal mosaicism could confidently be excluded.
		Similarly, mosaicism in the presence of a normal cell line would typically allow the presumption of a mitotic origin.
	www.charite.de /ch/medgen/eumedis/cytogenetics05/ldeletions-dups-ins.html (2050 words)

	Familial Mutation in the Testis-Determining Gene SRY Shared by an XY Female and Her Normal Father -- Jordan et al. 87 ...
		Hematoxylin and eosin stain of the gonads of the XY female proband showing nests of tumor cells composed of germ cells and small epithelial cells of sex cord type surrounded by a hyalinized basement membrane.
		that her gonads were, in fact, the source of the estradiol.
		McDonough PG, Ellegood JO, Byrd JR, Mahesh VB 1976 Ovarian and peripheral venous steroids in XY gonadal dysgenesis and gonadoblastoma.
	jcem.endojournals.org /cgi/content/full/87/7/3428 (3143 words)

	Taylor & Emily's Story
		We tested negative and Kami's x-inactivation pattern was random.
		That lead researchers to believe that one of us is a germline (or gonadal) mosaic.
		Gonadal mosaicism happens when a mutation occurs in a developing fetus' egg or sperm cells.
	www.sdrett.org /Taylor (837 words)

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