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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- Corney M J, Smith S: Early development of an infant with 18q- syndrome. J. Ment. Def. Res. 28:303-307, 1984. [PubMed: 6527378]46,XX,18q-.Aberration: Terminal deletionNo band
- Fearon E R, Cho K R, Nigro J M, Kern S E, Simons J W, Ruppert J M, Hamilton S R, Preisinger A C, Thomas G, Kinzler K W, Vogelstein B: Identification of a chromosomal 18q gene that is altered in colorectal cancers. Science 247:49-56, 1990. [PubMed: 2294591]MIM#: 120470Index Terms: Cancer ... colorectalNo band
- Fraccaro M, Hulten M A, Ivemark B I, Lindsten J, Tiepolo L, Zetterqvist P: Structural abnormalities of chromosome 18. I. A case of 18q-, with autopsy findings. Ann. Genet. 14:275-280, 1971. [PubMed: 5316132]Aberration: Terminal deletionNo band
- Francke U, Brown M G, Jones K L: Immediate chromosome diagnosis on bone marrow cells: an aid to management of the malformed newborn infant. J. Ped. 94:289-292, 1979. [PubMed: 762626]Patient No. 6 died after 12 months.46,XX,-21,+t(18q21q).Aberration: Simple translocationChromosomal Aneuploidy: 18q+No band
- Same entry as in 04p100,09q000 (Schmid, 1972).
- Silverman G A, Schneider S S, Massa H F, Flint A, Lalande M, Leonard J C, Overhauser J, van den Engh G, Trask B J.: The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. AJHG 56:926-937, 1995. [PMC free article: PMC1801205] [PubMed: 7717403]
Wilson M G, Towner J W, Forsman I, Siris E: Syndromes associated with deletion of the long arm of chromosome 18 del(18q). AJMG 3:155-174, 1979. [PubMed: 474629]46,XY,t(9;18)(p24;q21.3).Patient 1 (JL) in this report.46,XX,-18,+der(18)t(9;18)(p24;q21.3)pat.Patient 4-HB in this report.46,XX,del(18)(q21.1).Patient 6-CM in this report.46,XX,del(18)(q21.3q23).Patient 7-SD in this report.46,XY,del(18)(q21.1q21.3).Patient 8-JO in this report.46,XY,del(18)(q12.2q21.1) or (q11q12.2).Patients 2-DM, 3-MR, and 5-PM in this report.46,XX or XY,del(18)(q21.3).Aberration: TD,IDNo band - Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell R H A, Flint J, Donnai D, Biesecker L.: Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J. Med. Genet. 36:405-411, 1999. [PMC free article: PMC1734367] [PubMed: 10353788]Family 23:46,XX,del(18q).ish(D18S879-,P1 probe 2050a6-)Patient at age 16 years had no intelligible words, IUGR was detected at 24 weeks. Many dysmorphic features.Aberration: Interstitial deletionMIM#: 601808Chromosomal Aneuploidy: 18q-
- Subrt I, Pokorny J: Familial occurrence of 18q-. Humangenetik 10:181-187, 1970. [PubMed: 5507053]46,XX,18q-.&46,XX,der(18q-)mat.Aberration: Terminal deletionNo band
- Wilson G N, Al Saadi A A: Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1). J. Med. Genet. 26:62-63, 1989. [PMC free article: PMC1015541] [PubMed: 2918529]46,XY,del(18)(q12.1 or q12.3)de novo.Patient was 7 years old with developmental delay, autism, patterned movements, easy distractability, and behavioural abnormalities.Aberration: Interstitial deletionChromosomal Aneuploidy: 18q-Index Terms: ObesityNo band
- Yanagisawa S: Immunoglobulin abnormality in a girl with a large chromosome 18. J. Med. Genet. 9:360-365, 1972. [PMC free article: PMC1469126] [PubMed: 4116772]46,XX,18q+.No band
- 18q000 - Chromosomal Variation in Man18q000 - Chromosomal Variation in Man
- apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 2 [Homo sapiens]apoptosis-resistant E3 ubiquitin protein ligase 1 isoform 2 [Homo sapiens]gi|2288045713|ref|NP_001397975.1|Protein
- cytochrome b, partial (mitochondrion) [Rhamdia eurycephala]cytochrome b, partial (mitochondrion) [Rhamdia eurycephala]gi|1861717910|gb|QKY67327.1|Protein
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