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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- Manolakos E, Vetro A, Kitmirides S, Papoulidis I, Kosyakova N, Mrasek K, Weise A, Agapitos E, Orru S, Peitsidis P, Liehr T, Petersen M B.: Prenatal diagnosis of a fetus with ring chroomosome 15 characterized by array-CGH. Prenat. Diag. DOI=10.1002/pd.2295, 2009. [PubMed: 19455597]Amnio=mos46,XX,r(15)(p11.1q26.3)[21]/45,XX,-15[9].Pregnancy was terminated at 18 weeks. Fetus was found to have MCA.Aberration: Ring chromosome
- Narahara K, Hiramoto K, Murakami M, Miyaki S, Tsuji K, Yokoyama Y, Namba H, Ninomiya S, Murakami R, Seino Y: Unique karyotypes in two patients with Prader-Willi syndrome. AJMG 42:671-677, 1992. [PubMed: 1632436]Patient 1 was 4 months old.mos45,XX,t(15;15)(qter -> p11.1::q11.200 -> qter)/46,XX,t(15;15)(qter -> p11.1::q11.200 -> qter),+r(15)(p11.1q11.1).Patient 2 was 12 years old.47,XX,del(15)(q11.200 -> q11.207),+idic(15)(pter -> q11.1::q11.1 -> pter).Aberration: TR,RI,DIMIM#: 176270Variable band
- Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D.: A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy. AJMG 129A:176-179, 2004. [PubMed: 15316980]46,XY[84%]/47,XY,+SMC[16%].ish der r(15)(q11.1-13p11.1)pat.The patient was 5 years old, not toilet trained, a simple language and attended special education classes.A result of IVF pregnancy. The two normal chromosomes 15 were of maternal origin.Aberration: Ring chromosomeMIM#: 176270Chromosomal Aneuploidy: 15q+Index Terms: PWS-SMC
- White L M, Treat K, Leff A, Styers D, Mitchell M, Knoll J H M.: Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation. Prenat. Diag. 18:111-116, 1998. [PubMed: 9516010]45,X,dic(Y;15)(q11.23;p11.1).,45,X,der dic(Y;15)(Ypter->Yq11.23::15p11.1->15qter)pat.,Previous pregnancy=47,XX,der dic(Y;15)pat,+21 but interpreted previously as 15p+.The fetus inherited the normal 15 from his mother.Aberration: DI,UPIndex Terms: UPD
- Zou Y S, McGrann P S, Uphoff T S, Van Dyke D L.: A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. AJMG Part A: 140A: 1663-1668, 2006. [PubMed: 16830338]47,XX,+r(15)(::p11.1->q14::q14->p11.1::)[22%,44/200].The 16 month-old had several dysmorphic features and hypotonia, developmental delay, speech delay, microstomia, and micrognathia.Aberration: Ring chromosomeChromosomal Aneuploidy: 15q+
- 15p111 - Chromosomal Variation in Man15p111 - Chromosomal Variation in Man
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- IridectomyIridectomySurgical removal of a section of the iris.<br/>Year introduced: 2003MeSH
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