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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- Asamoah A, Nandi K N, Prouty L, Thurmon T F, Chen H.: A case of insertional translocation involving chromosomes 2 and 4. Clin. Genet. 53:142-146, 1998. [PubMed: 9611076]Patient RW:46,XY,dir ins(2;4)(p24;p15.3p13)de novoThe 6 yo boy was being evaluated for global developmental delay, seizure disorder, and history of chromosome abnormality. He also had macrocephaly, hypotonia, psychomotor retardation, multiple minor congenital anomalies and EEG abnormalities.Previous karyotype interpretation at another laboratory was:46,XY,del(4)(p12)de novo.,An apparently balanced interchromosomal insertion associated with position effects is causing the phenotypic abnormalities.Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 4p-
- 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]inv(2)(p24q11).Aberration: Inversion pericentricPositive band
- Francis G L, Flannery D B, Byrd J R, Fisher S T: An apparent de novo terminal deletion of chromosome 2 (pter to p24:). J. Med. Genet. 27:137-138, 1990. [PMC free article: PMC1016938] [PubMed: 2319584]46,XY,del(2)(qter -> p24:).Aberration: Terminal deletionChromosomal Aneuploidy: 2p-Positive band
- Friedrich U, Houman M, Sandgaard J, Rosgaard A, Sunde L.: Microdissection of chromosome 2 - between-arm intrachromosomal insertion. Europ. J. Hum. Genet. 8:393-395, 2000. [PubMed: 10854102]Fetus II-4=46,XX,rec(2) dup(2)(q21q23)ins(2)(p24q21q23)mat.,Fetus II-3=46,XY,rec(2)del(2)(q21q23)ins(2)(p24q21q23)mat.Mother had spontaneous abortions.Aberration: Direct insertions within a chromosomeChromosomal Aneuploidy: 2q-No band
- Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]Case III-1 from S. Riley.mos46,XY/46,XY,inv(2)(p24q25)(28.9%).Normal male liveborn.46,XY in blood and foreskin.Aberration: Inversion pericentricPositive band
- Knott T J, Rall S C, Innerarity T L, Jacobson S F, Urdea M S, Levy-Wilson B, Powell L M, Pease R J, Eddy R L, Nakai H, Byers M G, Priestly L M, Robertson E, Rall L B, Betsholtz C, Shows T B, Mahley R W, Scott J: Human apolipoprotein B: structure of carboxyl-terminal domains, sites of gene expression, and chromosomal localization. Science 230:37-43, 1985. [PubMed: 2994225]The gene for apo-B100 is located on 2p24.Positive band
- Kohn G: Personal communication, 1978.46,XX,del(2)(qter -> p24:).Aberration: Terminal deletionPositive band
- Kuwano A, Sugio Y, Murano I, Kajii T: Common fragile sites induced by folate deprivation, BrDU and aphidicolin: their frequency and distribution in Japanese individuals. Jpn. J. Hum. Genet. 33:355-364, 1988. [PubMed: 3144619]This site is common to folate deficiency and aphidicolin.Aberration: Fragile sitesPositive band
- Larson L M, Bruce A W, Saumur J H, Wasdahl W A: Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACPI) and malate dehydrogenase (MDHI) loci on chromosome 2p. Clin. Genet. 22:220-225, 1982. [PubMed: 7151307]
Larson L M, Wasdahl W A, Saumur J H, Coleman M L, Hall J G, Dolan C R, Schutta C J: "Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q." Clin. Genet. 21:187-195, 1982. [PubMed: 7094394]46,XX and XY,der(2)der(10)t(2;10)(p24;q26)mat and pat.,46,XX or XY,-10,+der(10)t(2;10)(p24;q26)mat and pat.,Evidence shows that the ACPI gene is in the region 2p24->2pter and that MDH is not.Aberration: Reciprocal translocationMIM#: 171500Index Terms: Erythrocyte acid phosphatasePositive band - Mattei M G, Mattei J F, Bernard R, Giraud F: Partial trisomy 4 resulting from a complex maternal rearrangement of chromosomes 2, 4, and 18 with interstitial translocation. Hum. Genet. 51:55-61, 1979. [PubMed: 500092]46,XX,ins(18;4)(q22;q12q13),t(2;4)(p24;q13).,The patient has been followed till 6 years of age; had psychomotor retardation and various abnormalities.,46,XX,t(2;4)(2qter->2p24::4q13->4qter; 4pter->4q12::2p24->2pter; 18pter->18q22::4q12->4q13::18q22->18qter).Aberration: Complex translocationPositive band
- Pettenati M J, Rao P N, Phelan M C, Grass F, Rao K W, Cosper P, Carroll A J, Elder F, Smith J L, Higgins M D, Lanmn J T, Higgins R R, Butler M G, Luthardt F, Keitges E, Jackson-Cook C, Brown J, Schwartz S, Van Dyke D, Palmer C G. : Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases. AJMG 55:171-187, 1995. [PubMed: 7717416]The case is from Swedish Hospital Medical Center (F. Luthardt/E. Ketges).inv(2)(p24p25.2)mat.Reason of ascertainment was incidental/prenatal.Aberration: Inversion paracentricIndex Terms: Inversions ... paracentricPositive band
- Singer N, Gersen S, Warburton D: The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24 to pter). Prenat. Diag. 7:567-571, 1987. [PubMed: 3317387]46,XX,t(2;10)(p24;q26).,46,XY,der(10)(10pter->10q26::2p24->2pter)mat.Aberration: Simple translocationChromosomal Aneuploidy: 2p+Positive band
- Talisetti A, Forrester S R, Gregory D, Johnson L, Schneider M C, Kimonis V E.: Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Clin. Dysmorphol. 12:175-177, 2003. [PubMed: 14564155]46,XX,t(2;9)(p24;q32)de novoThe 5 year old patient has MCA and profound MR.Aberration: Reciprocal translocationIndex Terms: Temtamy-like syndrome
- 02p240 - Chromosomal Variation in Man02p240 - Chromosomal Variation in Man
- tyrosine-protein kinase Yes isoform X2 [Homo sapiens]tyrosine-protein kinase Yes isoform X2 [Homo sapiens]gi|1370473802|ref|XP_024307015.1|Protein
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