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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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01q230

1q23
  • Same entry as in 10p112 (Bailey et al, 1996).

  • Anonymous N I: Interstitial deletion 46,XY,del(1)(q23q25). Hum. Genet. 61:277, 1983.
    Aberration: Interstitial deletion
    Negative band
  • 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]
    t(1;5)(q23;q35); t(1;11)(q23;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Brown T, Robertson F W, Dawson B M, Hanlin S J, Page B M: Individual variation of centric heterochromatin in man. Hum. Genet. 55:367-373, 1980. [PubMed: 7203471]
    47,XY,+21,der(1)der(13)t(1;13)(q23;q22)mat.
    Aberration: Simple translocation
    Negative band
  • Brown W T.: Progeria: a human disease model of accelerated aging. Amer. J. Clin. Nutr. 55:1222S-1224S, 1992. [PubMed: 1590260]
    Erikson M, Brown W T, Gordon L B, Glynn M W, Singer J, Scott L, Erdos M R, Robbins C M, Moses T Y, Berglund P, Dutra A, Pak E, Durkin S, Csoka A B, Boehnke M, Glover T W, Collins F S.: Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature DOI=10.1038/Nature01629; 423:293-298, 2003. [PubMed: 12714972]
    46,XY,inv ins(1;1)(q32;q44q23)[70%]/46,XY;upd(1q)mat
    Aberration: II,UPD
    Index Terms: Hutchinson-Gilford Progeria syndrome (HGPS),Lamin A (LMNA)
  • Same entry as in 01p130 (Chen et al, 1995).

  • Same entry as in 01p130 (Uehara et al, 1995).

  • Same entry as in 01p340 (Meschede et al, 1994).

  • Same entry as in 01p363 (Tayel et al, 1999).

  • Same entry as in 07q213 (Ignatius et al, 1996).

  • Couzin D A, Watt J L, Stephen G S: Structural rearrangements in the parents of children with primary trisomy 21. J. Med. Genet. 24:280-282, 1987. [PMC free article: PMC1050051] [PubMed: 2953898]
    46,XX,t(1;13)(q23;q22)mat.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Dewald G W: Personal communication, 1976.
    Dewald G W, Spurbeck J L, Gordon H: Automated videodensitometric analysis of autosomal translocations. AJHG 26:26A, 1974.
    Family C in this report.
    46,XY/46,XY,t(1;6)(q23;q27).&The break point in chromosome 6 was identified erroneously as q36 in the printed abstract.
    Aberration: Simple translocation
    Negative band
  • Franco B, Lai L W, Patterson D, Ledbetter D H, Trask B J, van den Engh G, Iannaccone S, Frances S, Patel P I, Lupski J R: Molecular characterization of a patient with del(1)(q23-q25). Hum. Genet. 87:269-277, 1991. [PubMed: 1677922]
    Patient S.T.
    46,XX,del(1)(q23q25)de novo.
    Patient was 16 years old with MCA/MR.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Same entry as in 01q120 (Germain-Lee E L et al, 1990).

  • Same entry as in 01p130 (Howard, 1979).

  • Joshi S N, Ganesh A, Venugopalan P.: 46,XY,der(3)t(1;3)(q23;p22): double aneuploidy at a new breakpoint. Clin. Dysmorph. 11:145-146, 2002. [PubMed: 12002149]
    46,XY,der(3)t(1;3)(3qter->3p22::1q23->1qter)mat.
    The 1-year-old, Omani infant, showed facial dysmorphism, spastic legs and preaxial polydactyly in the right hand.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+;3p-
  • Kalousek D K, 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 No. 111
    46,XY,t(1;14)(q23;q32)mat.
    Aberration: Reciprocal translocation
    Negative band
  • 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 No. 26
    46,XY,t(1;4)(q23;p12)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kleczkowska A, Kubien E, Pietrzyk J J: "Genetic risk of a familial translocation t(1;5)(q23;q35)." Genetica Polonica 21:339-343, 1980.
    46,XX and XY,der(1)der(5)t(1;5)(q23;q35)?.&"46,XX,der(1)der(5)t(1;5)(q23;q35)mat."
    Patient W.Z. had three spontaneous abortions in three consecutive years.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Same entry as in 01p130 (Lee et al, 1974).

  • Leschot N J, Wolf H, van Prooijen-Knegt A C, van Asperen C J, Verjaal M, Schuring-Blom G H, Boer K, Kanhai H H H, Christiaens G C M L: Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Brit. J. Obst. Gynecol. 96:663-670, 1989. [PubMed: 2803989]
    t(1;5)(q23;q23)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Lo L J, Noordhoff M S, Huang C S, Chen K T, Chen Y R: Proximal deletion of the long arm of chromosome 1: \del(1)(q23-q25)\. Cleft Palate-Craniofaci. J. 30:586-589, 1994. [PubMed: 8280739]
    46,XY,del(1)(q23->q25)de novo.
    There were MCA in this 2 yr 3 mo old patient.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Negative band
  • Magenis E, Olson S, 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 No. 100
    46,XY,t(1;12)(q23;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    46,XY,t(1;16)(q23;p13).
    Male with azoospermia was studied.
    Aberration: Reciprocal translocation
    Index Terms: Azoospermia
    Negative band
  • Mohandas T K, Kaback M M, 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 No. 16
    46,XY,t(1;3)(q23;q21)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Neu R L, Miller K, 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 No. 66
    46,XX,t(1;7)(q23;p15)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Norwood T H, Hoehn H: Trisomy of the long arm of human chromosome 1. Humangenetik 25:79-82, 1974. [PubMed: 4442882]
    46,XX,t(1;3)(q23;p25).&"46,XX,t(1;3)(1pter -> 1q23::3p25 -> 3pter;3qter -> 3p25::1q23 -> 1qter)."&"46,XY,der(1)der(3)t(1;3)(q23;p25)mat."&"46,XY,-3,+der(3)t(1;3)(q23;p25)pat."&See comment in entry of Garrett et al (1975) under 01q250.
    Aberration: Reciprocal translocation
    Negative band
  • Pallotta R, Dalpra L, Miozzo M, Ehresmann T, Fusilli P.: A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiency. AJMG DOI=10.1002/ajmg.10068; and 104:282-286, 2001. [PubMed: 11754060]
    46,XY,del(1)(q23q31.2)de novo
    The patient, was 14 years old, had MCA anomalies.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Arnold-Chiari type 1 malformation,Antithrombin III deficiency
  • Silengo M C, Davi G F, Bianco R, Biagioli M, Guala A, Franceschini P, Novelli G: Interstitial deletion of chromosome 1 (q23-q25). Report of a case. Clin. Genet. 25:549-552, 1984. [PubMed: 6587954]
    Patient S.M. died after 6 months; parental karyotypes were normal.
    46,XX,del(10)(pter -> q23::q25 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Same entry as in 01q200 (Taysi et al, 1982).

  • Temtamy S A, Meguid N A, Mahmoud A, Afifi H H, Gerzawy A, Zaki M S.: COFS syndrome with familial 1;16 translocation. Clin. genet. 50:240-243, 1996. [PubMed: 9001808]
    46,XY,der t(1;16)(q23;q13)mat.,Mother=mos46,XX,t(1;16)(15%)/46,XX.
    The patient was 3 years old and parents were first cousins.
    Aberration: Reciprocal translocation
    MIM#: 214150
    Index Terms: COFS
    No band
  • Tinning S, Jacobsen P, Mikkelsen M: "A (1;16) translocation associated with congenital glaucoma and cleft lip and palate." Hum. Hered. 25:453-460, 1975. [PubMed: 1225819]
    Case B.F. (000971) in this report.
    46,XY,t(1;6)(q23;q27).
    Aberration: Simple translocation
    Index Terms: Cleft lip/palate,Glaucoma
    Negative band
  • Same entry as in 01p340 (Toth et al, 1982).

  • Uchida I A, Freeman V, 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 No. 14
    46,XY,t(1;3)(q23;q13.3)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 0Xq220 (Warburton D, 1991).

  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD 7902151:
    46,XX,t(1;11)(q23;q13)pat.
    Ascertainement was during prenatal diagnosis.
    Lab ID DD9807788:
    46,XX,t(1;4)(q23;p15.3)mat.
    Ascertainement is listed as miscellaneous.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106548
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