NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Barber J C K, Mahl H, Portch J, Crawfurd M D''A: Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review. Prenat. Diag. 11:411-416, 1991. [PubMed: 1924182]46,XX and XY,del(11)(pter -> p13::p12 or p11.2->qter).Aberration: Interstitial deletionChromosomal Aneuploidy: 11p-No band
- Bischoff F Z, Feldman G L, McCaskill C, Subramanian S, Hughes M R, Shaffer L G.: Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith-Wiedemann syndrome. Hum. Mol. Genet. 4:395-399, 1995. [PubMed: 7795593]These authors have demonstrated somatic mosaicism in single cells from a patient with BWS.Mosaic paternal disomy was demonstrated for markers D11S922(p15.5), TH(p15.5), HBB(p15.5), and D11S904(p13-p14).Aberration: IsodisomyMIM#: 130650Index Terms: Paternal isodisomy,Beckwith-Wiedemann syndrome
- Hahnemann J M, Vejerslev L O.: Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centrer contributing to EUCROMIC 1986-1992. Prenat. Diag. 17:801-820, 1997. [PubMed: 9316125]Case No. FN0746,XX,11p-Aniridia was present.High resolution and FISH studies showed the abnormality after live birth.Aberration: Interstitial deletionMIM#: 194070Chromosomal Aneuploidy: 11p-Index Terms: Aniridia
- Lebo R V, Kan Y W, Cheung M C, Carrano A V, Yu L C, Chang J C, Cordell B, Goodman H M: Assigning the polymorphic human insulin gene to the short arm of chromosome 11 by chromosome sorting. Hum. Genet. 60:10-15, 1982. [PubMed: 6281170]46,X,t[X;inv(11)](Xpter->Xq11::11p12 or 11->11p12 or 13->11pter;,Xqter->Xq11::11p11 or 12->11p12 or 13::11p11->11qter).The authors used two cell lines in their studies:,"46,XX,t(4;11)(q25;q13)."Aberration: Simple translocationMIM#: 147670No band
- Malcolm S, Barton P, Murphy C, Ferguson-Smith M A: Chromosomal localization of a single copy gene by in situ hybridization-human beta globin genes on the short arm of chromosome 11. Ann. Hum. Genet. 45:135-141, 1981. [PubMed: 6172077]MIM#: 141900No band
- Pueschel S M, Padre-Mendoza T: Chromosome 11 and Beckwith-Wiedemann syndrome. J. Ped. 104:484-485, 1984. [PubMed: 6707807]46,XX,t(11p;22q).,The balanced translocation was present in the patient as well as in her normal brother.Aberration: Simple translocationMIM#: 130650Index Terms: Beckwith-Wiedemann syndromeNo band
- Retbi J M, Raoul O, Allemon M C, Dayras J C: Chromosome 11 en anneau (46,XX,r11), une nouvelle observation. La Nouv. Presse Med. 10:181, 1981. [PubMed: 7220329]Patient B. S., was 2 years old. Parents'' karyotypes were normal.Aberration: Ring chromosomeNo band
- Rethore M O, Junien C, Aurias A, Couturier J, Dutrillaux B, Kaplan J C, Lejeune J: Increase of LDH A and partial trisomy 11p. Ann. Genet. 23:35-39, 1980. [PubMed: 6965838]MIM#: 150000No band
- Riccardi V M, Sujansky E, Smith A C, Francke U: Chromosomal imbalance in the aniridia-Wilm''s tumor association: 11p interstitial deletion. Pediatrics 61:604-610, 1978. [PubMed: 208044]Aberration: Interstitial deletionMIM#: 194070Index Terms: Aniridia,Wilms tumorNo band
- Schonfield P N, Lindham S, Engstrom W: Analysis of gene dosage on chromosome 11 in children suffering from Beckwith-Wiedemann syndrome. Europ. J. Ped. 148:320-324, 1989. [PubMed: 2565235]No evidence was found for deletions or amplifications of 11p in four patients.No band
- 11p100 - Chromosomal Variation in Man11p100 - Chromosomal Variation in Man
Your browsing activity is empty.
Activity recording is turned off.
See more...