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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-.

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

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  • 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]
    Aberration: Inversion pericentric
    Index Terms: COD-FISH
    No band
  • Barnes I C S, Curtis D, Duncan S L B: A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features. J. Med. Genet. 25:264-267, 1988. [PMC free article: PMC1015512] [PubMed: 3367354]
    Patient was 18 years old.
    46,X,der(X)(pter -> q28::p11.2 -> pter).
    Negative band
  • Bitoun P, Philippe C, Cherif M, Mulcahy M T, Gilgenkrantz S: "Incontinentia pigmenti (Type 1) and X;5 translocation." Ann. Genet. 35:51-54, 1992. [PubMed: 1610121]
    46,X,t(X;5)(p11.2;q35.2)de novo-amniotic fluid & blood.
    Patient was 5 years old.
    Aberration: Reciprocal translocation
    MIM#: 308300
    Index Terms: Incontinentia pigmenti
    Negative band
  • Callen D F, Mulley J C, Baker E G, Sutherland G R: Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences. Hum. Genet. 77:236-240, 1987. [PubMed: 3479386]
    Case WP.
    46,X,i(Xq)(Xqter -> Xq11::Xp112 -> Xqter).
    Aberration: Isochromosome
    Negative band
  • Crolla J A, Gilgenkrantz S, de Grouchy J, Kajii T, Bobrow M: Incontinentia pigmenti and X-autosome translocations. Non-isotopic in situ hybridization with an X-centromeric-specific probe (pSV2X5) reveals a possible X-centromeric breakpoint in one of five published cases. Hum. Genet. 81:269-272, 1989. [PubMed: 2921037]
    Hatchwell E.: Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. J. Med. Genet. 33:177-183, 1996. [PMC free article: PMC1051863] [PubMed: 8728687]
    Hodgson S V, Neville B, Jones R W A, Fear C N, Bobrow M: Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum. Genet. 71:231-234, 1985. [PubMed: 4065895]
    Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    In the paper by Waters et al:,Cases 36-38=46,X,t(X;2)(p11.2;31).,Case 40=46,X,t(X;6)(p11.2;p21.1).,Case P41=46,X,t(X;8)(p11.2;q24.1).,Case P42=46,X,t(X;16)(p11.2;q13).,Case P43=46,X,t(X;22)(p11.2;q11.2)de novo.,Case P44=46,X,t(X;22)(p11.2;q11.2)de novo.
    Case 1 was 3 1/2 years old, and case P46 in the paper of Waters et al.
    At age 21 she remains severely delayed and unable to sit unaided with no communication.
    It has been shown that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5.
    Aberration: Simple translocation
    MIM#: 308300
    Negative band
  • Duckett D P, Young I D: A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion. Hum. Genet. 79:251-254, 1988. [PubMed: 3042599]
    Case 8 in this report.
    46,X,inv(X)(p11.2q26).&46,X,rec(X),dup q,inv(X)(p11.2q26)mat.
    Patient was 7 3/4 years old with short stature.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: Xq+
    Negative band
  • Duncan A M V, Macdonald A, Brown C J, Wolff D, Willard H F, Sutton B: Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization. AJMG 47:1153-1156, 1993. [PubMed: 8291547]
    Wolff D J, Brown C J, Schwartz S, Duncan A M V, Surti U, Willard H F: Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations. AJHG 55:87-95, 1994. [PMC free article: PMC1918222] [PubMed: 8023855]
    The 11 year old boy was studied because of clumsiness and learning disabilities.
    The extra marker X chromosome is late replicating by BrdU method.
    Aberration: Ring chromosome
    Index Terms: Learning disability,Clumsiness
    Negative band
  • Gerard-Blanluet M, pipiras E, Levaillant J M, Joye N, Koubi V, Kanafani S, Vergnaud A, Verloes A, Gonzales M, Jeny R, Benzacken B.: Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening. Prenat. Diag. 27: 1062-1063, 2007. [PubMed: 17705236]
    46,X,del(X)(p11.2p?22.3).ish 46,X,der(X)(p11.2?22.3)(WCPX+, telXpter-,tel14q++).
    The pregnancy was terminated.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: Xp-; 14q+
    Index Terms: Pierre Robin sequence
  • Hecht T, Cooke H J, Cerrillo M, Meer B, Reck G, Hameister H: A new case of Y to X translocation in a female., 1980. [PubMed: 6931098]
    in press. Cited in Wolf, U, M Fraccaro, A Mayerova, T Hecht, P Maraschio and H Hameister: A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum. Genet. 54:149-154, 1980
    Patient No. 153 (B.R.), female, 26 years, with secondary amenorrhoea and short stature.
    46,X,t(X;Y)(Xqter -> Xp112::Yq11 -> Yqter).
    Aberration: Simple translocation
    Index Terms: Stature ... short (low)
    Negative band
  • Jewett T, Hart P S, Rao P N, Pettenati M J.: A case revisited: recent presentation of Incontinentia pigmenti in association with a previously reported X;autosome translocation. AJMG 69:96-97, 1997. [PubMed: 9066891]
    Pettenati M J, Teot L A, Smith C, Hayworth R, Thomas I T, Veille J C, Rao P N: Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases. AJMG 45:365-369, 1993. [PubMed: 8434625]
    Patient 2.
    Blood-mos46,X,idic(Xq)\6\/46,X,idic(Xq),-12,+der(12)t(X;1 2)(p11.2;p13.3)\18\.
    The infant was evaluated because of dysmorphic features.
    Aberration: DI,ST
    MIM#: 308300
    Index Terms: Incontinentia pigmenti
    Negative band
  • Kolomietz E, Godbole K, Winsor E J T, Stockley T, Seaward G, Chitayat D.: Functional disomy of Xp: prenatal findings and postnatal outcome. AJMG DOI=10.1002/ajmg.a.30652; 134A:393-398, 2005. [PubMed: 15793841]
    The extra Xp was of paternal origin.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp+
  • Lamont M A, Dennis N R, Seabright M: Chromosome abnormalities in pupils attending ESN/M schools. Arch. Dis. Childhood 61:223-226, 1986. [PMC free article: PMC1777694] [PubMed: 2421647]
    Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case No. 7 in this report.
    Aberration: Reciprocal translocation
    Negative band
  • Lebo R V, Milunsky J, Higgins A W, Loose B, Huang X-L, Wyandt H E.: Symmetric replication of an unstable isodicentric Xq chromosome derived from isolocal maternal sister chromatid recombination. AJMG 85:429-437, 1999. [PubMed: 10405438]
    Amnio=mos45,X[8]/46,X,idic(X)(p11.2)[5]/47,X,idic(X)(p11.2,idic(X)(p11.2)[2].,Other fetal tissues=45,X/46,XX,i(Xq).
    The pregnancy was terminated. Both the centromeres appeared to be active in two-thirds of cells.
    Aberration: DI,IC
  • Leite R P, Pinto M.: Prenatal detection of an inverted X chromosome in a male fetus. Prenat. Diag. 21:233-234, 2001. [PubMed: 11260613]
    46,der inv(X)(p11.2q24)matY.
    Pregnancy was continued and a normal male child was delivered (currently 3 years old).
    The mother and two of her other normal sons had the same inversion X.
    Aberration: Inversion pericentric
  • Letterie G S.: Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome. AJMG 59:414-416, 1995. [PubMed: 8585557]
    The 18 year-old was evaluated for delayed puberty & primary amenorrhea.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq+
    Index Terms: Ullrich-Turner syndrome
    Negative band
  • Lossi A-M, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei M-G, Croquette M-F, Villard L.: Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. J. Med. Genet. 39:113-117, 2002. [PMC free article: PMC1735036] [PubMed: 11836360]
    46,X,t(X;21)(p11.2;q22.3)de novo.
    The 5 year old patient was referred because of delayed psychomotor development.
    Aberration: Simple translocation
  • McGinniss M J, Brown D H, Burke L W, Mascarello J T, Jones M C.: Ring chromosome X in a child with manifestations of Kabuki syndrome. AJMG 70:37-42, 1997. [PubMed: 9129739]
    mos45,X(5 cells)/46,X,r(X)(p11.2q13)(25 cells)
    The 9 year old patient had long palpebral fissures, prominent lower lashes, and thick eyebrows.
    The ring(X) was confirmed by FISH using numerous probes and was found to be of paternal origin.
    Aberration: Ring chromosome
    MIM#: 147920
    Chromosomal Aneuploidy: Xp&q-
    Index Terms: Kabuki Syndrome
  • Miller A P, Willard H F: Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. PNAS 95:8709-8714, 1998. [PMC free article: PMC21141] [PubMed: 9671743]
  • Nielsen K B, Langkjaer F: Inherited partial X chromosome duplication in a mentally retarded male. J. Med. Genet. 19:222-224, 1982. [PMC free article: PMC1048871] [PubMed: 7108918]
    Patient was mentally retarded male. In the mother the abnormal X was preferentially inactivated.
    46,Y, dir dup der(X)(p11.2 -> p21.2)mat.
    Aberration: Duplication
    Negative band
  • Ocrant I, Bangs C D, Johnston K M, Wilson D M, Hintz R L, Rosenfeld R G, Donlon T A: Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution. AJMG 32:536-539, 1989. [PubMed: 2773999]
    47,XX,+psu dic(X)(Xqter -> Xp11.2::Xp11.2 -> Xqter).
    Patient was 8 years old with short stature, which is thought to be unrelated, and was phenotypically normal.
    One normal and the abnormal X were inactivated.
    Aberration: Dicentric chromosome
    Chromosomal Aneuploidy: Xq+,Xp+(proximal)
    Negative band
  • Panasiuk B, Uginskiene R, Kostyk E, Rybatko A, Stasiewicz-Jarocka B, Krzykwa B, Pienkowska-Grela B, Kucinskas V, Michalova K, Midro A.: Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X. Ann. Genet. 47:11-28, 2004. [PubMed: 15050871]
    Family 4:
    Malformed fetus died in utero.
    Aberration: Reciprocal translocation
  • Dahoun S: De novo paracentric inversion of the short arm of chromosome X: a second case. Ann. Genet. 33:52-55, 1990. [PubMed: 2195983]
    Paoloni-Giacobino A, Lespinasse J, Moix I, Dahoun S P.: A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH. Ann. Genet. 44:117-119, 2001. [PubMed: 11694221]
    The case was restudied at the age of 30 years with newer techniques. Unfortunately, no follow-up with the patient was possible since she left Switzerland for Greece.
    Observation No. 88-0235.
    The older interpretation was 46,X,inv(X)(p11.21p22.11).
    Patient was 17 years old with stigmata of Turner syndrome.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q+
  • Radhakrishna U, Shah V C, Chinoy N J: Unilateral gonadal dysgenesis with both testis and Fallopian tube on the same side in a 45,X/46,X,inv(Y) mosaic male. Jpn. J. Hum. Genet. 36:251-255, 1991. [PubMed: 1753438]
    Aberration: Inversion pericentric
    Index Terms: Gonadal dysgenesis,Fallopian tube
    Negative band
  • Rao V N, Huebner K, Isobe M, ar-Rushdi A, Croce C M, Reddy S P: elk, tissue-specific ets-related genes on chromosomes X and 14 near translocation breakpoints. Science 244:66-70, 1989. [PubMed: 2539641]
    MIM#: 311040
    Index Terms: Elk
    Negative band
  • Sharp A J, Spotswood H T, Robinson D O, Turner B M, Jacobs P A.: Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Hum. Mol. Genet. 11:3145-3156, 2002. [PubMed: 12444099]
    Case 1 (SP)=46,X,der(X)t(X;11)(q26.3;p12)de novo(pat).
    SP was 5 years old, had mild developmental delay, large stature with growth on the 97th centile, a very long tongue and other dysmorphic features.
    The breakpoints were between DXS1187 and DXS1062 and D11S4102 and D11S1355 respectively.
    Case 2 (SR)=46,X,der(X)t(X;7)(q27.3;q22.3)mat.
    SR was 16 years old with severe phenotypic abnormalities, motor and developmental delays, and severe MR.
    The breakpoints were between DXS998 and DXS1684 and between D7S2420 and D7S523.
    Case 3 (AL0044)=46,X,der(X)t(X;6)(p11.2;p21.1)mat.
    The breakpoints were between DXS1058 and DXS8083 and between ZNF76 and D6S269.
    Case 4 (B00566)=46,X,der(X)t(X;6)(q28;p12)de novo(pat).
    B00566 has minor dysmorphic features, and developmental and motor problems.
    The breakpoints were between DXS1073 and DXS1108 and between D6S269 and GCLC.
    Case 5 (AH)=46,X,der(X)t(X;10)(q26.3;q23.3)mat.
    The breakpoints were between DXS1073 and DXS1108 and distal to D10S583.
    Aberration: ST,RT
  • Shulman L P, Tharapel A T, Simpson J L, Meyers C M, Tucker B, Weisskopf B, Elias S: Three different, non-mosaic sex chromosome abnormalities (direct cytotrophoblasts, mesenchymal core cultures, and abortus skin fibroblasts): implications for elucidating chorionic villi mosaicism. J. Med. Genet. 26:791-792, 1989. [PMC free article: PMC1015768] [PubMed: 2614804]
    Cytotrophoblasts:46,X,inv(X)(p11.2q28).&Mesenchymal core cells:45,X&Fibroblasts:46,X,del(X)(p11.2).
    Pregnancy was terminated.
    Aberration: PI,TD
    Negative band
  • Sloan-Bena F, Philippe C, LeHeup B, Wuilque F, Levy E R, Chery M, Jonveaux P, Monaco A P.: Characterisation of an inverted X chromosome (p11.2q1.3) associated with mental retardation using FISH. J. Med. Genet. 35:146-150, 1998. [PMC free article: PMC1051220] [PubMed: 9507395]
    46,Y,der inv(X)(p11.2q21.3)mat.
    The 11 year old was referred because of mild MR, short stature, prepubescent macro-orchidism, and submucous cleft palate.
    Aberration: Inversion pericentric
  • Thomas N S, Huson S M.: Atypical phenotype in a female with a large Xp deletion. AJMG DOI=10.1002/ajmg.1583;104:81-83, 2001. [PubMed: 11746034]
    46,X,der del(X)(p11.2)pat.
    The 34 year old patient was detected during the work-up for IVF after pregnancy problems.
    The breakpoint was between markers DXS8035 (distally) and DXS8083 (proximally). Parental karyotypes were normal.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xp-
  • Tomkins D J, McDonald H L, Farrell S A, Brown C J.: Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. Europ. J. Hum. Genet. 10:44-51, 2002. [PubMed: 11896455]
    46,X,r(X)(p11.3q13).ish r(X)(XIST+).
    The patient was 3 years old.
    Aberration: Ring chromosome
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,X,inv(X)(p11.2p22.13)de novo.
    Aberration: Inversion paracentric
    Negative band
  • 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]
    Aberration: Inversion pericentric
    Negative band
  • Wolff D J, Schwartz S, Carrel L.: Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome. Genet. in Med. 2:136-141, 2000. [PubMed: 11397327]
    Case No. 24:46,X,i(Xq)(qter->p11.21::p11.21->qter).,Case Nos. 25 and 26:mos45,X/46,X,r(X)(p11.2q12).,Case No. 27:mos45,X/46,X,r(X)(p11.2q13).
    Patients 24, 26, and 27 had Turner syndrome, and number 25 had an abnormal phenotype with dysmorphia and MR.
    Aberration: RI,IC
  • Wolf U, Fraccaro M, Mayerova A, Hecht T, Maraschio P, Hameister H: A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum. Genet. 54:149-154, 1980. [PubMed: 7390489]
    No. 153(B.R.) Reported by Hecht et al (1980).
    46,X,t(X;Y)(Xqter -> Xp112::Yq11 -> Yqter).
    No. 198(M.A.).
    No. 199(C.V.).
    No. 202(F.B.).
    mos 46,X,del(X)(q21)/45,X.
    No. 206(M.O.).
    No. 91(F.M.). Reported by Tiepolo at al (1977, 1980).
    Aberration: Simple translocation
    MIM#: 306970
    Negative band
  • Zinn A R, Tonk V S, Chen Z, Flejter W L, Gardner H A, Guerra R, Kushner H, Schwartz S, Sybert V P, Van Dyke D L, Ross J L.: Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. AJHG 63:1757-1766, 1998. [PMC free article: PMC1377648] [PubMed: 9837829]
    Subjects SW71, SW85, SW103, SW112, and SW151=46,X,del(X)(p11.2).
    A total of 28 patients with different karyotypes were studied.
    Aberration: TD,ST
    Chromosomal Aneuploidy: Xp-
    Index Terms: Turner syndrome locus
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105793


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