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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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10p112

10p11.2
  • Same entry as in 0Xq22.1 (Waters et al, 2001).
  • Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. AJMG 99:223-233, 2001. [PubMed: 11241494]
    Blennow E, Tillberg E.: Small extra ring chromosome derived from chromosome 10p: clinical report and characterisation by FISH. J. Med. Genet. 33:399-402, 1996. [PMC free article: PMC1050610] [PubMed: 8733051]
    Case M:
    mos47,XY,+r(10)(66% in lymphocyte culture)/46,XY.
    The patient was followed till 16 years of age and has dysmorphic features including a unilateral cleft lip and palate, and mild MR.
    D10Z1 gave a positive centromere signal. Whole chromosome specific paint (PCR-10) labels the whole chromosome. Positive signals were obtained by using JC2108 and JC2139 probes localised to 10p11.2.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 10p+
    Index Terms: ESAC
    Negative band
  • Bailey S M, Meyne J, Cornforth M N, McConnell T S, Goodwin E H.: A new method for detecting pericentric inversions using COD-FISH. Cytogenet. Cell Genet. 75:248-253, 1996. [PubMed: 9067435]
    46,XX,inv(10)(pter->p11.2::q21->p11.2::q21->qter)
    The cell line is contributed by Dr. D. Van Dyke of Detroit.
    Aberration: Inversion pericentric
    No band
  • Behjati F, Shafeghati Y, Kahrizi K, Firouzabadi S G, Najmabadi H, Dixon N, Davies A F.: Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation. AJMG Part A: 146A:3223-3226, 2008. [PubMed: 19012333]
    46,XY,del(10)(p11.2p132)dn.ish del(10),(RP11-524p14+,RP11-914p15+,RP11-194d12+,RP11-7K17+,959g10+,940f09+,934e11-,875b04-).
    The patient was 7 years old with MCA and moderate MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 10p-
  • Collinson M N, Fisher A M, Walker J, Currie J, Williams L, Roberts P.: Inv(10)(p11.2q21.2), a variant chromosome. Hum. Genet. 101:175-180, 1997. [PubMed: 9402964]
    33 families with 80 carriers of this common inversion have been reported.
    inv(10)(p11.2q21.2).
    We, DSB at CCHS, also have had several cases of inv(10)(p11.2q21.2) and have found them to be familial and without phenotypic changes.
    Aberration: PI,MA
  • Gerdes A M, Petersen M B, Schroder H D, Wulff K, Brondum-Nielsen K: "Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions." Clin. Genet. 45:11-16, 1994. [PubMed: 7908614]
    46,XX,t(10;17)(p11.2;q25)de novo.&"46,XX,der(10)der(17)t(10;17)(p11.2q25)mat."
    The mother showed discrete signs of myopathy. Maternal grandparents were chromosomally normal.
    Dominant inheritance is more likely here.
    Aberration: Reciprocal translocation
    MIM#: 253310
    Index Terms: Myopathy ... congenital with fiber type disproportion
    Negative band
  • Gilling M, Dullinger J S, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers H-H, Tumer Z, Kalscheuer V M, Thomas N S.: Breakpoint cloning and haplotype analysis indicate a single origin of the common inv(10)(p11.2q21.2) mutation among Northern Europeans. AJHG 78:878-883, 2006. [PMC free article: PMC1474032] [PubMed: 16642442]
    Tunnacliffe A, Liu L, Moore J K, Leversha M A, Jackson M S, Papi L, Ferguson-Smith M A, Thiesen H J, Ponder B A J: Duplicated KOX zinc finger gene clusters flank the centromere of human chromosome 10: evidence for a pericentric inversion during primate evolution. Nucl. Acids Res. 21:1409-1417, 1993. [PMC free article: PMC309326] [PubMed: 8464732]
    Cluster A (ZNF11A, ZNF33A, and ZNF37A) maps to 10p11.2, while cluster B (ZNF11B, ZNF33B, and ZNF37B) is in 10q11.2.
    Aberration: Inversion pericentric
    Index Terms: Pericentric inversion,Primate evolution
    Negative band
  • Kato Z, Kato T, Kondo N, Orii T.: Interstitial deletion of the short arm of chromosome 10: report of a case and review of the literature. Jpn. J. Hum. Genet. 41:333-338, 1996. [PubMed: 8996970]
    46,XX,del(10)(p11.21->p12.32 or p11.23->p13)de novo.
    At the age of 20 years, the patient had mild psychomotor retardation without growth retardation, downward palpebral fissures, ptosis, epicanthus, depressed nasal bridge, anteverted nostrils, micrognathia, small dysplastic ears, abnormally shaped skull, and cardiac malformation.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 10p-
    Negative band
  • Kozma C, Meck J M: Familial 10p trisomy resulting from a maternal pericentric inversion. AJMG 49:281-287, 1994. [PubMed: 8209887]
    46,XX,inv(10)(p11.2q26).,46,XX or XY,rec(10)dup p,inv(10)(p11.2q26)mat.
    The proband was investigated because of poor weight gain and bilateral cleft lip and palate.
    Five generation family was investigated.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 10p+
    Negative band
  • Lapi+¬re, J C, Verloes A, Herens C, Delfortrie J, Van Maldergem L, Gillerot Y, Koulischer L.: Combined 10pter->p11 and 18pter->q11 trisomy in a 7-year-old child. Genet. Counsel. 3:155-159, 1992. [PubMed: 1388935]
    47,XX,+der(18),t(10;18)(p11.2;q11.2)mat.
    The patient, born in 1983, was severely retarded and dysmorphic.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 10p+;18p+
  • Lin A Y, Nutman T B, Kaslow D, Mulvihill J J, Fontaine L, White B J, Knutsen T, Theil K S, Raghuprasad P K, Goldstein A M, Tucker M A.: Familial eosinophilia: clinical and laboratory results on a U.S. kindred. AJMG 76:229-237, 1998. [PubMed: 9508242]
    Two individuals: III-14 and IV-29 in this large kindred had inv(10)(p11.2q21.2).
    This inversion is now being thought considered as a normal variant.
    Aberration: Inversion pericentric
    MIM#: 131400
    Index Terms: Eosinophilia familial
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XY,inv(10)(p11.2q11.2).
    Aberration: Inversion pericentric
    Index Terms: High resolution G-banding
    Negative band
  • Megarbane A, Gosset P, Souraty N, Lapierre J M, Korban R, Zahed L, Samaras L, Vekemans M, Prieur M.: Chromosome 10p11.2-p12.2 duplication: report of a patient and review of the literature. AJMG 104:204-208; 10.1002/ajmg.10021, 2001. [PubMed: 11754045]
    Patient R.H. was 30 years old and referred for evaluation of MR.
    46,XY,dup(10)(p11.2p12.2)de novo
    Aberration: Duplication
    Chromosomal Aneuploidy: 10p+
  • Obregon M G, Mingarelli R, Giannotti A, di Comite A, Spedicato F S, Dallapiccola B: Partial deletion 10p syndrome. Report of two patients. Ann. Genet. 35:101-104, 1992. [PubMed: 1524405]
    Patient 1, C. R.
    46,XX,del(10)(p11.2p13)de novo.
    The 11 mo old had MCA and was developmentally delayed.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 10p-
    Index Terms: Di George syndrome
    Negative band
  • Ohba K I, Ohdo S, Sonoda T: Trisomy 10p syndrome owing to maternal pericentric inversion. J. Med. Genet. 27:264-266, 1990. [PMC free article: PMC1017032] [PubMed: 2182876]
    46,XX, rec(10), dup p, def q, inv(10)(p11.2q25.2)mat.
    This nomenclature correctly describes the karyotype present: that is material 10p11.2-> pter is duplicated and q25.2->qter is not present in the recombinant chromosome.
    Aberration: RE,PI
    Chromosomal Aneuploidy: 10p+,10q-
    Negative band
  • Palmer C G, Miles J H, Howard-Peebles P N, Magenis R E, Patil S R, Friedman J M: Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat. Diag. 7:551-555, 1987. [PubMed: 3317386]
    Anterior abdominal wall defect was suspected at 27 weeks.
    46,XY,inv(10)(p11.2q21.2)mat.
    Aberration: Inversion pericentric
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XX,inv(10)(p11.2q21.2)
    Aberration: Inversion pericentric
    Index Terms: ICSI
  • Trimborn M, Grueters A, Neitzel H, Tonnies H.: First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature. Cytogenet. Genome Res. 108:278-282, 2005. [PubMed: 15627745]
    47,XX,+mar.rev ish r(10)(p11.2q11.2)(wcp10+,cep10+)[8]/46,XX[48].
    The 14 year old patient was being evaluated for short stature.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 10p and 10q+
  • Tritto A T, Myles T, Morris K L, Batanian J R.: Recombinant chromosome 10 presenting as a prenatal central nervous system abnormality. Prenat. Diag. 29: 986-988, 2009. [PubMed: 19548264]
    Mother=46,XX,inv(10)(p11.1q25.2).,Fetus=46,XX,rec(10)dup(10p)inv(10)(p11.2q25.2)mat
    The infant died at 16 days of life as a result of chronic respiratory failure.
    Aberration: RE,PI
    Chromosomal Aneuploidy: 10p+;10q-
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,der inv(10)(p11.2q21.2)
    Two males, who were analysed independently in different centers.
    Aberration: Inversion pericentric
    Index Terms: ICSI
  • 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,XX,inv(10)(p11.2q21).
    46,XY,t(10;19)(p11.2;q13.4).
    Aberration: RT,PI
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106001
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