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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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0Xq280

0Xq28
  • Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M, Casalone R, Danesino C, Fraccaro M, Zuffardi O, Camerino G: Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum. Genet. 91:333-338, 1993. [PubMed: 8099057]
    Nine cases were reported. Case 7 (Patient PM):
    46,X,-Y,+der(Y)t(X;Y)(q28;q11.23)de novo.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xp+
    Negative band
  • Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mucke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T.: Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. AJMG Part A: 152A: 305-312, 2010. [PubMed: 20082459]
    Patient 1=46,XY.mlpa Xq28(P245)x2.arr Xq28(152,102,622-153,547,872x2)mat.,Patient 2=46,XY.mlpa Xq28(P245)x2.arr Xq28(152,815,231-153,061,160x2,153,177,486-153,209,762x4,153,211,354-153,269,633x2,153,274,201-153,277,230x3)mat.,Patient 3=46,XY.mlpa Xq28(SLC6A8,IDH3G,L1CAM)x1,(IRAK1,MECP2)x2,(SYBL1)x1.arr Xq8(152,820,356-153,061,160x2,153,158,642-153,220,801x3,,153,225,755-153,259,446x2,153,263,028-153,277,230x3)mat.,Patient 4=46,XY.arrXq28(152,089,094-153,217,424x2)mat.
    Aberration: Fragile sites
    MIM#: 300260
    Index Terms: MRXSL
  • Bates A, Howard P J: Distal long arm deletions of the X chromosome and ovarian failure. J. Med. Genet. 27:722-723, 1990. [PMC free article: PMC1017269] [PubMed: 2277392]
    46,X,der del(X)(pter -> q28:)mat.
    Both mother and daughter were reported to have premature menopause.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xq-
    Index Terms: Premature ... menopause
    Negative band
  • Brown W T.: The FRAXE syndrome: Is it time for routine screening? AJHG 58:903-905, 1996. [PMC free article: PMC1914605] [PubMed: 8651273]
    Knight S J L, Ritchie R J, Chakrabarti L, Cross G, Taylor G R, Mueller R F, Hurst J, Paterson J, Yates J R W, Dow D J, Davies K E.: A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. AJHG 58:906-913, 1996. [PMC free article: PMC1914619] [PubMed: 8651274]
    Testing for FRAXE is advocated by Knight et al.

    Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P.: Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum. Mol. Genet. 5:727-735, 1996. [PubMed: 8776586]
    Aberration: Fragile sites
    Index Terms: FRAXE
    Negative band
  • Caiulo A, Bardoni B, Camerino G, Guioli S, Minelli A, Piantanida M, Crosato F, Dalla Fior T, Maraschio P: "Cytogenetic and molecular analysis of an unbalanced translocation (X;7)(q28;p15) in a dysmorphic girl." Hum. Genet. 84:51-54, 1990. [PubMed: 2558067]
    B.S.
    46,X,t(X;7)(Xpter -> Xq28::7p15 -> 7pter).
    Patient was severely retarded and was 13 years old.
    Parental karyotypes were normal.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+,Xq-
    Negative band
  • Camargo M, Cervenka J: DNA replication and inactivation patterns in structural abnormality of sex chromosomes I. X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics. Hum. Genet. 67:37-47, 1984. [PubMed: 6745924]
    Escobar J I, Koch M: Psychiatric aspects of a family with a chromosome translocation. Dis. Nerv. Syst. 37:184-187, 1976. [PubMed: 1253675]
    Jenkins M B, Davis E, Thelen T H, Boyd L: A familial X-22 translocation with an extra X chromosome. AJHG 26:736-745, 1974. [PMC free article: PMC1762840] [PubMed: 4140689]
    Case II-3 (150566) in this report.
    45,X,-22,+der(X)t(X;22)(q28;q13)mat.
    Case II-(300840) in this report.
    45,X,-22,+t(X;22)(q28;q13).
    Cases II-1 (170462) and II-4 (300969) in this report.
    46,XY,-22,+t(X;22)(q28;q13)mat.
    Negative band
  • Carpenter N J, Leichtman L G, Say B: Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin. AJDC 136:392-398, 1982. [PubMed: 7081157]
    Aberration: Fragile sites
    Negative band
  • Chen C-P, Devriendt K, Chern S-R, Lee C-C, Wang W, Lin S-P.: Prenatal diagnosis of inherited satellited non-acrocentric chromosomes. Prenat. Diag. 20:384-389, 2000. [PubMed: 10820405]
    46,XqsY
    The proband manifested developmental delay, and had several malformations.
    Aberration: Satellited chromosome
    No band
  • Couillin Ph, Zucman J, Le Guern E, Reguigne I, Grisard M C, Delattre O, Novelli G, Dallapiccola B, Boue A: "Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization." Ann. Genet. 35:140-145, 1992. [PubMed: 1466562]
    Dallapiccola B, Marino B, Giannotti A, Valorani G: DiGeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature. Ann. Genet. 32:92-96, 1989. [PubMed: 2667458]
    45,X,t(X;22)(q28;q11.1).&"45,X,t(X;22)(Xpter -> Xq28::22q11.1 -> 22qter)."
    In the newborn female with manifestations of the DiGeorge anomaly were type I truncus arteriosus, T-cell abnormalities, thymic apalsia and parathyroid hypoplasia.
    The breakpoint was assigned between DXS296 and IDS loci at Xq28 and between D22S9 and BCRL2 at 22q11.
    Aberration: Simple translocation
    MIM#: 188400
    Chromosomal Aneuploidy: 22q-
    Index Terms: Di George syndrome
    Negative band
  • Cox J J, Holden S T, Dee S, Burbridge J I, Raymond F L.: Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation. J. Med. Genet. 40:169-174, 2003. [PMC free article: PMC1735403] [PubMed: 12624134]
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq+
  • de la Chapelle A, Schroder J: "Apparently non-reciprocal balanced human (3q-;Xq+) translocation: Late replication of a structurally normal X." Chromosomes Today 4:261-265, 1974.
    de la Chapelle A, Schroeder J, Klinger H P, Aronson M M, Miller R C, Greene A E, Coriell L L: "An (X;3) translocation, balanced, 46 chromosomes. Repository identification No. GM-194." Cytogenet. Cell Genet. 15:404-405, 1975. [PubMed: 1225501]
    Hellkuhl B, de la Chapelle A, Grzeschik K H: "Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation." Hum. Genet. 60:126-129, 1982. [PubMed: 6951798]
    46,X,t(X;3)(q2;q13).,"46,X,t(X;3)(Xpter -> Xq2::3q1 -> 3qter;3pter -> 3q1::?).",The normal X chromosome is inactive.
    Aberration: Tandem translocation
    Negative band
  • Delon B, Lallaoui H, Abel-Lablanche C, Geneix A, Bellec V, Benkhalifa M. : Fluorescent in-situ hybridzation and sequence-tagged sites for delineation of an X;Y translocation in a patient with secondary amenorrhoea. Mol. Hum. Reprod. 3:439-443, 1997. [PubMed: 9239729]
    46,X,t(X;Y)(Xpter->Xq28::Yq11.21->Yqter)
    The patient was 28 years old, infertile and otherwise phenotypically normal.
    Aberration: Simple translocation
  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    46,XY,der(18)t(X;18)(q28;q23)de novo.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q-
    No band
  • Du Sart D, Kalitsis P, Schmidt M: Noninactivation of a portion of Xq28 in a balanced X-autosome translocation. AJMG 42:156-160, 1992. [PubMed: 1733163]
    Schmidt M, Du Sart D: Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. AJMG 42:161-169, 1992. [PubMed: 1733164]
    46,X,t(X;9)(q28;q21).
    The 11-year-old was karyotyped because of mild mental retardation, bilateral enlargement of the sternocleidomastoid muscles, hoarse voice, minor toe abnormalities, and obesity.
    The patient is functionally disomic for the part of Xq28 distal to the L1 cell adhesion molecule locus.
    Aberration: Reciprocal translocation
    MIM#: 308840
    Index Terms: Noninactivation of Xq28 portion,X-autosome translocation
    Negative band
  • Dutrillaux B, Couturier J, Rotman J, Salat J, Lejeune J: "Sterilite et translocation familiale t(1q-;Xq+)." C. R. Acad. Sci. 274:3324-3327, 1972. [PubMed: 4626028]
    Individual II-2 in the pedigree.
    46,X,(1qh+),t(X;1)(q28;q31).
    Individual III-3 in the pedigree.
    46,Y,der(X)der(1)t(X;1)(q28;q31)mat.&A quadrivalent in which association of both sex chromosomes and two chromosomes 1 were observed.
    Aberration: Simple translocation
    Index Terms: Sterility
    Negative band
  • Engel W, Vogel W, Reinwein H: Autoradiographic studies on an X-autosomal translocation in man: 45,X,15-,tan(15qXq+)+. Cytogenetics 10:87-98, 1971. [PubMed: 5098032]
    45,X,-15,+tan(X;15)(q28;q1).&"45,X,-15,+tan(X;15)(Xpter -> Xq28::15q1 -> 15qter)."&Chromosome identification by autoradiography.
    Aberration: Tandem translocation
    Negative band
  • Feil R, Aubourg P, Mosser J, Douar A M, Le Paslier D, Philippe C, Mandel J L: Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. AJHG 49:1361-1371, 1991. [PMC free article: PMC1686466] [PubMed: 1746561]
    Aberration: Recombinant chromosomes
    MIM#: 300100
    Index Terms: Adrenoleukodystrophy
    Negative band
  • Fryns J P, Kleczkowska A, Wolfs I, van den Berghe H: Klinefelter syndrome and two fragile X chromosomes. Clin. Genet. 26:445-447, 1984. [PubMed: 6499257]
    Patient W.W. was 44 years old and moderately mentally retarded.
    47,XXY
    Two fragile X chromosomes were found in 20% of the cells (14/70).
    Aberration: Fragile sites
    Index Terms: Klinefelter syndrome and FS
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,X,t(X;14)(q28;q24).&"46,Y,t(X;15)(q28;q22)."
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Garcia J E, Cummings D K, Wentz A C, Jones H W, Rary J M: A 5/X chromosomal translocation in a patient with premature menopause. J. Hered. 68:75-80, 1977. [PubMed: 874310]
    46,XX,(X;5)(q28;p13).&"46,XX, and XY,der(5)der(X),t(X;5)(q28;p13)mat."
    22 year-old proband (Case III-4 in the pedigree).
    46,X,der(X),t(X;5)(q28;p13)mat.
    Aberration: Simple translocation
    Index Terms: Menopause
    Negative band
  • Glover T W: FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition. AJHG 33:234-242, 1981. [PMC free article: PMC1684940] [PubMed: 6452060]
    Glover T W, Howard-Peebles P N: The combined effects of FUdR addition and methionine depletion on the X-chromosome fragile site. AJHG 35:117-122, 1983. [PMC free article: PMC1685483] [PubMed: 6218753]
    Aberration: Fragile sites
    Negative band
  • Han J-Y, Shin J-H, Han M-S, Je G-H, Shaffer L G.: Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. J. Hum. Genet. DOI=10.1007/s10038-006-0409-2; 51:641-643, 2006. [PubMed: 16708166]
    46,X,der(X)t(X;11)(q28;p13)dn
    An 18-year-old girl with POF, tall stature, and urinary incontinence and some features of BWS is described.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: Xq-
    Index Terms: BWS
  • Hellkuhl B, de la Chapelle A, Grzeschik K H: "Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation." Hum. Genet. 60:126-129, 1982. [PubMed: 6951798]
    t(X;3)(q28;q21).
    Aberration: Simple translocation
    Negative band
  • Herbst D S, Dunn H G, Dill F J, Kalousek D K, Krywaniuk L W: Further delineation of X-linked mental retardation. Hum. Genet. 58:366-372, 1981. [PubMed: 6948768]
    Aberration: Fragile sites
    Negative band
  • Jacobs P A, Hunt P A, Mayer M, Wang J C, Boss G R, Erbe R W: Expression of the marker (X)(q28) in lymphoblastoid cell lines. AJHG 34:552-557, 1982. [PMC free article: PMC1685369] [PubMed: 6213152]
    Aberration: Fragile sites
    Negative band
  • Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]
    Patient 10, generation III:
    47,XX,+der(X)t(X;16)(q28;p12)mat.
    A fetus with severe malformations. 100% late replication, except for the autosomal segment.
    Patient 8, family b, generation I:
    46,X,t(X;16)(q28;p12)de novo
    A normal female patient, 45 years old.
    Patient 9, generation II:
    46,X,der(X)t(X;16)(q28;p12)mat.
    A normal 22 year old female. 100% early replication of the der(X).
    Aberration: Simple translocation
  • Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.
    46,XY,der(18)t(X;18)(q28;q23)de novo
    Size of partial Xq disomy is estimated to be 3-5Mb in size and the origin of the translocation is maternal.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 18q-;Xq+
  • Lakich D, Kazazian H H, Jr, Antonarakis S E, Gitschier J: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5:236-241, 1993. [PubMed: 8275087]
    Aberration: Inversion paracentric
    MIM#: 306700
    Index Terms: Haemophilia factor VIII
    Negative band
  • Maestrini E, Rivella S, Tribioli C, Rocchi M, Camerino G, Santachiara-Benerecetti S, Parolini O, Notarangelo L D, Toniolo D: Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation. AJHG 50:156-163, 1992. [PMC free article: PMC1682517] [PubMed: 1346076]
    Aberration: Marker chromosome
    Index Terms: CpG island
    Negative band
  • Masuno M, Imaizumi K, Fukushima Y, Tanaka Y, Ishii T, Nakamura M, Kuroki Y.: Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). J. Med. Genet. 34:952-954, 1997. [PMC free article: PMC1051130] [PubMed: 9391896]
    46,X,t(X;16)(q28;q11.2)de novo
    Aberration: Reciprocal translocation
    MIM#: 155145
  • Muller U, Tantravahi U, Monaco A P, Stroh H, Kunkel L M, Latt S A: Repeated DNA sequences in the distal long arm of the human X chromosome. Hum. Genet. 74:24-29, 1986. [PubMed: 3019869]
    Negative band
  • Nielsen K B, Tommerup N, Dyggve H V, Schou C: Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28). Hum. Genet. 61:113-117, 1982. [PubMed: 6215327]
    Aberration: Fragile sites
    Index Terms: Macro-orchidism
    Negative band
  • Pueschel S M, Scola P S, Mendoza T: Partial trisomy 2p. J. Ment. Def. Res. 31:293-298, 1987.
    Patient was 4 10/12 years old with short stature, congenital heart defect, and dysmorphic facial features.
    Mother:46,X,t(X;2)(q28;p21).&"46,X,der(X),t(X;2)(Xpter -> Xq28::2p21 -> 2pter)mat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2p+
    Index Terms: Congenital heart defects (cardiovascular anomalies),Facial dysmorphism,Stature ... short (low)
    Negative band
  • Rhoads F A, Oglesby A C, Mayer M, Jacobs P A: Marker X syndrome in an oriental family with probable transmission by a normal male. AJMG 12:205-217, 1982. [PubMed: 7102725]
    Aberration: Fragile sites
    Negative band
  • Robertson J, Faed M J W, Lamont M A, Crowder A M: Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. J. Med. Genet. 19:463-465, 1982. [PMC free article: PMC1048964] [PubMed: 7154045]
    46,X,idic(X)(Xpter -> Xqter::Xqter -> Xpter).
    Aberration: Dicentric chromosome
    Index Terms: Gonadal dysgenesis,Tallness
    Negative band
  • Sinha A K, Pathak S, Nora J J: Fusion of two apparently intact human X chromosomes. Hum. Genet. 32:295-300, 1976. [PubMed: 939549]
    A 15-year-old girl with short stature and failure of puberty was described with two major cell lines.
    46,X/46,X,t(X;X)(IXpter -> IXq28::IIXq28 -> IIXpter).&Karyotype of the mother was normal. Father contained a minute metacentric fragment in addition to 46,XY chromosomes. Only one of the centromeres appeared to be functional in this translocation chromosome.
    Aberration: Terminal rearrangements
    Index Terms: Stature ... short (low)
    Negative band
  • Smith A, Gaha T J: Data on families of chromosome translocation carriers ascertained because of habitual spontaneous abortion. Aust. N. Z. J. Obst. Gynecol. 30:57-62, 1990. [PubMed: 2346453]
    Case 4, JC.
    46,X,t(X;22)(q28;q12)de novo.
    Aberration: Reciprocal translocation
    Index Terms: Spontaneous abortion
    Negative band
  • Soysa P, Senanayahe M, Mikkelsen M, Poulsen H: Martin-Bell syndrome fra(X)(q28) in a Sri Lankan family. J. Ment. Def. Res. 26:251-257, 1982. [PubMed: 7169632]
    Aberration: Fragile sites
    Index Terms: Martin-Bell-Renpenning syndrome
    Negative band
  • Stengel-Rutkowski S, Zankl H, Rodewald A, Scharrer S, Chaudhuri J P, Zang K D: "Aspermia, associated with a presumably balanced X/autosomal translocation. Karyotype 46,Y,t(X;5)(q28;q11)." Hum. Genet. 31:97-106, 1976. [PubMed: 1248827]
    46,Y,t(X;5)(q28;q11).&"46,Y,t(X;5)(Xpter -> Xq28::5q11 -> 5qter;5pter -> 5q11:)."&X/autosomal translocation in this male was associated with aspermia and several stigmata of Klinefelter syndrome.
    Aberration: Simple translocation
    Index Terms: Aspermia,Klinefelter syndrome
    Negative band
  • Taysi K, Sparkes R S, O''Brien T J, Dengler D R: "Down''s syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation." J. Med. Genet. 19:144-148, 1982. [PMC free article: PMC1048847] [PubMed: 6210775]
    46,X,t(X;21)(Xpter -> Xq28::21q11 -> 21qter).&Parental chromosomes were normal.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Telvi L, Pinard J M, Ion R, Sinet P M, Nicole A, Feingold J, Dulac O, Pompidou A, Ponsot G: "De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome." J. Med. Genet. 29:747-749, 1992. [PMC free article: PMC1016139] [PubMed: 1433240]
    45,X,-21,der(X)t(X;2)(q28;q11)de novo.
    The patient is classified as having "an incomplete form of WBS".
    The patient is monosomic for segments Xq28 to Xqter and 21pter to 21q11. The inheritance pattern of the WBS is not fully known.
    Aberration: Simple translocation
    MIM#: 194050
    Index Terms: Williams-Beuren syndrome
    Negative band
  • Tommerup N, Poulsen H, Brondum-Nielsen K: 5-fluoro-2''-deoxyuridine induction of the fragile site on Xq28 associated with X-linked mental retardation. J. Med. Genet. 18:374-376, 1981. [PMC free article: PMC1048760] [PubMed: 6460104]
    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]
    46,X,t(X;2)(q28;q11).
    Aberration: Reciprocal translocation
    Negative band
  • 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 P97, B90/0642=46,X,t(X;3)(q28;q12).,Cases P98, B95/0681 and 99, B95/1295=46,X,t(X;8)(q28;q11.23).,Case P100, 94/1010=46,X,t(X;11)(q28;p14)de novo.,Case P101, 96/1843=46,X,t(X;19)(q28;p13.3)de novo.,Cases 102, KB4762 and 103, 96L/1215=46,X,t(X;20)(q28;q11.2).,Case 104, 88-2010=46,X,t(X;21)(q28;q11)de novo.
    Aberration: Simple translocation
    No band
  • Waters J J, Gourley D S, Aitken D A, Davison B C C: Trisomy 20q caused by der (X)t(X:20)(q11.2). AJMG 36:310-312, 1990. [PubMed: 2363429]
    46,X,der(X),t(X;20)(q28;q11.2)mat.&"46,X,t(X;20)(q28;q11.2)."
    Gene dosage studies of ADA were done to confirm the trisomy.
    Aberration: Simple translocation
    MIM#: 102700
    Chromosomal Aneuploidy: 20q+
    Negative band
  • Wirth J, Back E, Huttenhofer A, Nothwang H-G, Lich C, Grob S, Menzel C, Schinzel A, Kioschis P, Tommerup N, Ropers H-H, Horsthemke B, Buiting K. : A translocation breakpoint cluster disrupts the newly defined 3'' end of the SNURF-SNRPN transcription unit on chromosome 15. Hum. Mol. Genet. 10:201-210, 2001. [PubMed: 11159938]
    Proband E.H. was born in 1968.
    46,X,t(X;15)(q28;q12)de novo
    At age 20, she was referred because of MR, short stature, obesity, primary amenorrhea, hypogonadotropic hypogonadism with normal pubertal development and hypoplastic uterus. The patient was found to have some characteristics of PWS.
    Aberration: Reciprocal translocation
    No 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]
    Wolff D J, Schwartz S, Montgomery T, Zackowski J L.: Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype. AJMG 77:401-404, 1998. [PubMed: 9632170]
    Patient M.V.:
    46,X,t(X;9)(q28;q12)
    The 11 month old infant was evaluated because of developmental delay, short stature, and microcephaly.
    Aberration: Reciprocal translocation
    Index Terms: X inactivation random in a t(X,9)
  • Yatsenko S A, Sahoo T, Rosenkranz M, Mendoza-Londono R, Naeem R, Scaglia F.: Attenuated phenotype in a child with trisomy 1q due to unbalanced X;1 translocation [46,X,der(X).t(X;1)(q28;q32.1)]. AJMG DOI=10.1002/ajmg.a.30094, 2004. [PubMed: 15211662]
    46,X,der(X),t(X;1)(q28;q32.1)de novo
    The infant had MCA.
    The trisomic 1q segment was estimated to be approximately 50-53 Mb. The breakpoint on 1q32.1 is between RP11-173E24 and RP11-109H10. The breakpoint on the X was between clones RP11-316K19 (not deleted) and RP11-337E5 (deleted).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
  • Zuffardi O, Fraccaro M: Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (314300, McKusick) is at Xq28, distal to the G6PD locus. Hum. Genet. 62:280-281, 1982. [PubMed: 6132873]
    MIM#: 314300
    Index Terms: Cryptorchidism, (see also Testes, undescended)
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107022
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