- Bale S J, Bale A E, Stewart K, Dachowski L, McBride O W, Glaser T, Green J E, Mulvihill J J, Brandi M L, Sakaguchi K, Aurbach G D, Marx S J: Linkage analysis of multiple endocrine neoplasia type I with INT2 and other markers on chromosome 11. Genomics 4:320-322, 1989. [PubMed: 2565877]The locus INT2 was found to be closely linked to the MEN1 gene.MIM#: 131100Negative band
- Same entry as in 01p350,01q230,01q420,07q360,10q260,11p150 (Boue and Gallano, 1984).
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(11;12)(q13;q24); t(11;16)(q13;p11); t(11;16)(q13;p13).Aberration: Reciprocal translocationNegative band
- Cheung P, Kao F T, Law M L, Jones C, Puck T T, Chan L: Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11. PNAS 81:508-511, 1984. [PMC free article: PMC344707] [PubMed: 6420790]MIM#: 107680Negative band
- Ferguson-Smith M A: Gene Mapping by exclusion. BD-OAS XI(No. 3):126-129, 1975. [PubMed: 1203470]t(11;15)(q13;q26).Aberration: Simple translocationNegative band
- Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]Family No. 16.46,XY,inv(11)(q13q23)mat.Aberration: Inversion paracentricNegative band
- Gerner-Smidt P, Friedrich U, Petersen G B, Tischfield J A: "A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization." Hum. Genet. 42:61-66, 1978. [PubMed: 649170]46,XX and XY,der(11)der(16)t(11;16)(q13;p11)mat and pat.Aberration: Reciprocal translocationNegative band
- Guc-Scekic M, Pilic-Radivojevic G, Mrdjenovic G, Djuric M: Interstitial deletion of 11q. J. Med. Genet. 26:205-206, 1989. [PMC free article: PMC1015587] [PubMed: 2468775]46,XY,del(11)(q13q21).The patient had retarded growth and mental development, quadricephaly, micrognathia, high arched palate, low-set abnormal ears, digital anomalies, and anomalies of the limbs.Parental karyotypes were normal.Aberration: Interstitial deletionChromosomal Aneuploidy: 11q-Index Terms: QuadricephalyNegative band
- Hamerton J L, Canning N, Ray M, Smith S: A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8:223-243, 1975. [PubMed: 1183067]
Hamerton J L, Ray M, Douglas G R: Chromosome banding techniques in clinical cytogenetics. Nobel Symposium 12:209-213, 1973.46,XY,t(11;20)(q13;p13).,46,XY,t(11;20)(11pter->11q13::20p13->20pter;,20qter->20p13::11q13->11qter).Case 1170 (160570) in this report.46,XY,der(11)der(13)t(11;13)(q13;q32)pat.Case II (HO70672 NB-9351) in this report.46,XX,der(11)der(20)t(11;20)(q13;p13)pat.,46,XY,t(11;13)(q13;q32).Aberration: Reciprocal translocationNegative band - Jackson J F, 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. 949.46,XX,t(11;15)(q13;q26)mat.Aberration: Reciprocal translocationNegative band
- Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
Jacobs P A, Melville M, Ratcliffe S G, Keay A J, Syme J: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37:359-376, 1974. [PubMed: 4277977]M. R. C. Registry Nos. K72-22-70 and K72-178-71 in this report.46,XX and XY,t(11;13)(q13;q21).&The two individuals are sibs.Aberration: Simple translocationNegative band - Koeffler H P, Sparkes R S, Stang H J, Mohandas T K: Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. PNAS 78:7015-7018, 1981. [PMC free article: PMC349184] [PubMed: 6273902]46,XX,t(11;16)(q13;p11).Negative band
- Koeffler H P, Sparkes R S, Stang H J, Mohandas T K: Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. PNAS 78:7015-7018, 1981. [PMC free article: PMC349184] [PubMed: 6273902]46,XX,t(11;16)(q13;p11).Negative band
- Kotzot D. Rothlisberger B, Riegel M, Schinzel A.: Maternal uniparental isodisomy 11q13->qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13->qter. J. Med. Genet. 38:876-881, 2001. [PMC free article: PMC1734778] [PubMed: 11768394]Blood (6 yrs)=46,XX,der(19)t(11;19)(q13;p13.3)[17]/46,XX[83].,Blood (26 yrs)=46,XX[40].,Fibroblasts=46,XX,der(19)t(11;19)(q13;p13.3)de novo[30]/46,XX[20].Aberration: ST,UPDChromosomal Aneuploidy: 11q+
- Orye E, Ven Bever H: Paracentric inversions: two new familial cases, inv(7)(q22q11) and inv(11)(q23q13). J. Med. Genet. 20:231, 1983. [PMC free article: PMC1049057] [PubMed: 6576176]46,XX and XY,inv(11)(pter -> q13::q23 -> q13::q23 -> qter).Aberration: Inversion paracentricNegative band
- Same entry as in 09q340,10q260 (Sachs et al, 1988).
- Smeets D F C M, Scheres J M J C, Hustinx T W J: Heritable fragility at 11q13 and 12q13. Clin. Genet. 28:145-150, 1985. [PubMed: 4042396]Aberration: Fragile sitesNegative band
- Takahashi E I, Hori T A, Murata M: Population cytogenetics of rare fragile sites in Japan. Hum. Genet. 78:121-126, 1988. [PubMed: 3338799]Aberration: Fragile sitesNegative band
- Thakker R V, Bouloux P, Wooding C, Chotai K, Broad P M, Spurr N K, Besser G M, O''Riordan J L H: Association of parathyroid tumors in multiple endocrine neoplasia type I with loss of alleles on chromosome 11. NEJM 321:218-224, 1989. [PubMed: 2568587]Data on three families G/87, P/87, and R/87 are presented.INT 2 locus and the disease locus are closely linked.Aberration: Interstitial deletionMIM#: 131100Negative band
- Tharapel A T, Michaelis R C, Velagaleti G V N, Laundon C H, Martens P R, Buchanan P D, Teague K E, Tharapel S A, Wilroy R S, Jr.: Chromosome duplications and deletions and their mechanisms of origin. Cytogenet. Cell Genet. 85:285-290, 1999. [PubMed: 10449919]Patient AG, was referred at 29 months of age because of developmental delay.mos46,XX,inv dup(11)(q23q13)[26]/46,XX,del(11)(q13q23)[24]Aberration: ID,DUChromosomal Aneuploidy: 11q-;11q+
- Tsujimoto Y, Yunis J J, Onorato-Showe L, Erikson J, Nowell P C, Croce C M: "Molecular cloning of the chromosomal breakpoint of B-cell lymphomas and leukemias with the t(11;14) chromosome translocation." Science 224:1403-1406, 1984. [PubMed: 6610211]Index Terms: LeukemiaNegative band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(11;12)(q13;p13).Aberration: Reciprocal translocationNegative band
- Zhao H-q, Rope A F, Saal H M, Blough-Pfau R I, Hopkin R J.: Upper airway malformation associated with partial trisomy 11q. AJMG DOI=10.1002/ajmg.a.20134, 2003. [PubMed: 12838551]Patient 3:46,XX,add(11)(q25).ish dup(11)(q25q13)(wcp11+).The patient was 5 years old with MCA. Communication was limited to a social smile.Parental karyotypes were normal.Aberration: RT,DUChromosomal Aneuploidy: 11q+Index Terms: Upper airway malformation
Publication Details
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 11q130.