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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Markie D, Huson S, Maher E, Davies A, Tomlinson I, Bodmer W F.: A pericentric inversion of chromosome six in a patient with Peutz-Jeghers'' syndrome and the use of FISH to localise the breakpoints on a genetic map. Hum. Genet. 98:125-128, 1996. [PubMed: 8698325]46,XY,inv(6)(p11.2q25.1).The patient was 44 years old with classic features of the Peutz-Jeghers'' syndrome. All other affected members of the family, including the parents, are deceased.The short arm breakpoint was found to be between the signals produced by 713E3 and that produced by 678C11 and 877D3, corresponding to a 1-cM interval between D6S257 and D6S402. The long arm breakpoint appears to be D6S403 and D6S311.Aberration: Inversion pericentricMIM#: 175200Index Terms: Peutz-Jeghers' DiseaseNegative band
- Passarge E.: A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15). Cytogenet. Cell Genet. 91:192-198, 2000. [PubMed: 11173855]
Poot M, van''t Slot R, Leupert R, Beyer V, Passarge E, Haaf T.: Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive sppech and reduced pain perception. Europ. J. Med. Genet. 52: 27-30, 2009. [PubMed: 19041736]In 2000=46,XX,del(6)(q13q15),inv(6)(p11.2q15)de novo,Revised in 2009=46,XX,der(6)(pter->p12.3::p12.3::,p12.1->p12.1::q14.3->p12.1::p12.3->p12.2::q16.1)A detailed account of phenotypic changes from infancy to 25 years is provided with photographic documentation. This patient, now 32 years old, has impaired mental development and facial dysmorphism, among other problems.Aberration: PI,IDChromosomal Aneuploidy: 6p-No band - Patil S R, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1749.46,XX,inv(6)(p11.2p25)mat.Aberration: Inversion paracentricNegative band
- 06p112 - Chromosomal Variation in Man06p112 - Chromosomal Variation in Man
- Rps18 ribosomal protein S18 [Mus musculus]Rps18 ribosomal protein S18 [Mus musculus]Gene ID:20084Gene
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