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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- Anton E, Vidal F, Egozcue J, Blanco J.: Genetic reproductive risk in inversion carriers. Fert. Steril. 85: 661-666, 2006. [PubMed: 16500335]Case 1:46,XY,inv(2)(p11.2q13).Aberration: Inversion pericentricIndex Terms: Reproductive risks in inv carriers
- Emanuel B S, Selden J R, Chaganti R S K, Jhanwar S C, Nowell P C, Croce C M: "The 2p breakpoint of a 2;8 translocation in Burkitt lymphoma interrupts the Vk locus." PNAS 81:2444-2446, 1984. [PMC free article: PMC345077] [PubMed: 6585808]MIM#: 113970Index Terms: Burkitt lymphomaNegative band
- Fickelscher I, Liehr T, Watts K, Bryant V, Barber J C K, Heidemann S, Siebert R, Hertz J M, Tumer Z, Thomas N S.: The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. AJHG 81: 847-856, 2007. [PMC free article: PMC2227935] [PubMed: 17847011]Aberration: Marker chromosome
- Karp L, Resta R, 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 Nos. 1201 to 1204.46,XX & XY,inv(2)(p11.2q13)mat & pat.Aberration: Inversion pericentricNegative band
- Lacbawan F L, White B J, Anguiano A, Rigdon D T, Ball K D, Bromage G B, Yang X, DiFazio M P, Levin S W.: Rare interstitial dletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin. AJMG 87:139-142, 1999. [PubMed: 10533028]Proband=46,XY,der(2)del(2)(p11.2p13)inv(2)(p11.2p13)pat.,Father=46,XY,inv(2)(p11.2q13).The one year old patient has flat, broad, slightly upturned nares, cupped ears, hearing loss, and epidermal inclusion cyst on the left anterior neck.Aberration: PI,IDChromosomal Aneuploidy: 2p-
- Lewanda A F, Cohen M M, Jr, Hood J, Morsey S, Walters M, Kennedy J L, Jr, Jabs E W: "Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder." Am. J. Dis. Child. 147:1306-1308, 1993. [PubMed: 8249950]46,XX,der(2)der(9)t(2;9)(p11.2;q34.2)pat.Patient''s father was unaffected.The balanced translocation does not appear to be related to Apert syndrome in the opinion of the authors.Aberration: Simple translocationMIM#: 101200Index Terms: Apert syndromeNegative band
- Los F J, Van Hemel J O, Jacobs H J J, Drop S L S, Van Dongen J J M: De novo deletion (2)(p11.2p13): clinical, cytogenetic, and immunological data. J. Med. Genet. 31:72-73, 1994. [PMC free article: PMC1049605] [PubMed: 8151644]46,XY,del(2)(p11.2p13)de novo.Aberration: Interstitial deletionMIM#: 146970Chromosomal Aneuploidy: 2p-Negative band
- Macgregor D J, Imrie S, Tolmie J L: Outcome of de novo balanced translocations ascertained prenatally. J. Med. Genet. 26:590-591, 1989. [PMC free article: PMC1015701] [PubMed: 2810345]Proband 1.t(2;14)(p11.2;q11.2).Clinically normal at age 1.3 years.Aberration: Reciprocal translocationNegative band
- Magee A C, Humphreys M W, McKee S, Stewart M, Nevin N C.: De novo direct duplication 2 (p12->p21) with paternally inherited pericentric inversion 2p11.2 2q12.2. Clin. Genet. 54:65-69, 1998. [PubMed: 9727743]46,XY,inv(2)(p11.2q12.2).,46,XX,dup(2)(p12p21),der inv(2)(p11.2q12.2)patThe 4 year old patient has micrognathia, low-set ears, and epicanthic folds.Aberration: PI,DDChromosomal Aneuploidy: 2p+
- Maziade M, Debraekeleer M, Genest P, Cliche D, Fournier J P, Garneau Y, Shriqui C, Roy M A, Nicole L, Raymond V, Vekemans M J J: A balanced 2:18 translocation and familial schizophrenia: falling short of an association. Arch. Gen. Psychiat. 50:73-75, 1993. [PubMed: 8422227]Pedigree 218.46,XX and XY,der(2)der(18)t(2;18)(p11.2;p11.2)pat.The segregation of the translocation and schizophrenia is not consistent but interesting.Aberration: Simple translocationMIM#: 181510Index Terms: SchizophreniaNegative band
- Ostroverkhova N V, Nazarenko S A, Rubtsov N B, Nazarenko L P, Bunina E N.: Characterization of a small supernumerary ring marker derived from chromosome 2 by forward and reverse chromosome painting. AJMG 87:217-220, 1999. [PubMed: 10564873]46,XY/47,XY,+mar.rev ish r(2)(p11.2->q14.1)The propositus was referred, at the age of 18 months, because of developmental delay and physical anomalies, including dolichocephaly, coarse hair, low-set ears, exophthalmos, epicanthal folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, talipes varus on the right, inguinal hernia, hypogenitalism, muscular hypotonia, and mental retardation.Aberration: Ring chromosomeChromosomal Aneuploidy: 2q+
- Prasher V P, Krishnan V H R, Clarke D J, Maliszewska C T, Corbett J A: Deletion of chromosome 2 (p11 to p13): case report and review. J. Med. Genet. 30:604-606, 1993. [PMC free article: PMC1016464] [PubMed: 8411037]46,XY,del(2)(p11.2p13).Aberration: Interstitial deletionChromosomal Aneuploidy: 2p-Negative band
- Schmidt S, Claussen U, Liehr T, Weise A.: Evolution versus constitution: differences in chromosomal inversion. Hum. Genet. 117:213-219, 2005. [PubMed: 15886998]inv(2)(p11.2q13).Multicolor banding (MCB) approach was used in this study.Aberration: Inversion pericentric
- Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bertels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner R-D, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F, Liehr T.: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum. Genet. DOI=10.1007/s00439-003-1016-3;114:51-67, 2003. [PubMed: 13680362]
Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolor banding and region specific probes. J. Med. Genet. 39:434-439, 2002. [PMC free article: PMC1735147] [PubMed: 12070255]35 SMCs derived from all the human chromosomes, except 6, were studied.In nine cases without an aberrant phenotype, neither partial proximal trisomies nor UPD could be detected. Small proximal trisomies of 1p, 1q, 2p, 6p, 6q, 7q, 9p, and 12q seem to lead to clinical manifestations, whereas partial proximal trisomies of 2q, 3p, 3q, 5q, 7p, 8p, 17p, and 18p may not be associated with significant clinical symptoms.Case 11:GTG=47,XX,+mar.,MCB=47,XX,+r(2)(p11.2q11.1)de novo.BOR syndrome-like symptoms (ie craniofacial dysmorphism and dysplasia of the kidney).Case 8:GTG=46,XY,dup(2)(p12).,MCB=46,XY,dup(2)(p13.2p11.2).The patient had infertility problems but was otherwise healthy.Case 9:GTG and MCB=46,XX,der inv(2)(p11.2q13.1)pat.Healthy individual.Aberration: DU,PI,MA,RIChromosomal Aneuploidy: 2p+Index Terms: Multicolor banding (MCB) - Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.: Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints. AJMG DOI=10.1002/ajmg.a.20378; 124A:10-18, 2003 and 2004. [PubMed: 14679581]Patient 3=46,XY,der(2)(2pter->2p13::2p11.2->2qter),der(7)t(2;7;14)(7pter->7q21.11::7q21.11->7q21.11::2p11.2->2p13::7q21.11->7q31.1::14q21.1->14qter)del(7)(q21.11q21.11)der(14)t(7;14)(14pter->14q24.1::7q32->7qter)de novo.Patient was 6 years and 9 months old.Aberration: Complex translocation
- 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(2;10)(p11.2;p15).&46,XY,inv(2)(p11.2q13).Aberration: RT,PINegative band
- Wenger S L, McPherson E W.: Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality. Clin. Genet. 52:61-62, 1997. [PubMed: 9272715]46,XY,del(2)(p11.2p13)de novoThe infant died at the age of 2 months and had scoliosis, pectus carinatum, long slender fingers, camptodactyly, cryptorchidism, hypertonia and myopia.Aberration: Interstitial deletionChromosomal Aneuploidy: 2p-No band
- Wiland E, Hobel C J, Hill D, Kurpisz M.: Successful pregnancy after preimplantation genetic diagnosis for carrier of t(2;7)(p11.2;q22) with high rates of unbalanced sperm and embryos: a case report. Prenat. Diag. 28: 36-41, 2008. [PubMed: 18186141]46,XY,t(2;7)(p11.2q22).A three generation family with multiple miscarriages was studied. A girl with a normal karyotype was born after PGD.Aberration: Reciprocal translocationIndex Terms: Preimplantation Genetic diganosis (PGD)
- Writzi K, Lovrecic L, Peterlin B.: Interstitial deletion 2p11.2-p12: further delineation. AJMG Part A: DOI:10.1002/ajmg.a.33064, 2009. [PubMed: 19764038]46,XY,del(2)(p11.2p12)dn approximately 10.43 Mb spanning the bases 76,854,464-87,287,935.The patient was 5.9 years old with several dysmorphic features.Aberration: Interstitial deletionChromosomal Aneuploidy: 2p-
- Yung J F, Williamson N, Salafsky I, Hoo J J: Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q. J. Med. Genet. 25:570-572, 1988. [PMC free article: PMC1080038] [PubMed: 2459386]46,XX,t(2;5)(5qter->5q22::2p11.2->2qter;,5pter->5q15::2p11.2->2pter),del(5)(q15q22).6 month old patient with developmental delay and dysmorphic features.Aberration: Reciprocal translocationChromosomal Aneuploidy: IDNegative band
- 02p112 - Chromosomal Variation in Man02p112 - Chromosomal Variation in Man
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