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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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01p130

1p13
  • 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]
    Case A:
    The ring was present in 30% of cells in lymphocytes.,r(1)(p10p13)de novo.
    The patient was 13 years old with MR and dysmorphic features.
    Aberration: Ring chromosome
    No 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,XY,del(1)(pter->q21.3::q23->qter),,inv(1)(pter->p13::q12->p13::q12->qter)
    The cell line is contributed by Dr. O. Alfi of Los Angeles.
    Aberration: PI,ID
    Chromosomal Aneuploidy: 1q-
    No band
  • Ballesta F, Fernandez E, Mila M: "Translocation t(1;8;15)maternelle et trisomie 8qter chez la fille conseil genetique." J. Genet. Hum. 28:361-366, 1980. [PubMed: 7463035]
    46,XX,t(1;8;15)(p13q25;q22;q25).&"46,XX,t(1;8;15)(1qter -> 1q25::1p13 -> 1q25::8q22 -> 8qter;8pter -> 8q22::15q24 -> 15qter;1pter -> 1p13::15q24 -> 15pter)."&"46,XX,-1,-15,+der(1)+der(15)t(1;8;15)(p13q25;q22;q24)mat."
    Aberration: Complex translocation
    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;3)(p13;p13); inv(1)(p13q21).
    Aberration: PI,RT
    Negative band
  • Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet. 71:366-367, 1985. [PubMed: 4077053]
    46,XY,inv(1)(p13q25).
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Negative band
  • Chen H, Tuck-Muller C M, Batista D A S, Wertelecki W.: Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. AJMG 56:219-223, 1995. [PubMed: 7625449]
    mos46,XY/47,XY,r(1)(p13q23).
    Patient was 15 years old with MCA.
    Aberration: Ring chromosome
    Negative band
  • Cohen O, Simonet M, Cans C, Mermet M A, Demongeot J, Amblard F, Jalbert P: Human reciprocal translocations: a new computer system for genetic counseling. Ann. Genet. 35:193-201, 1992. [PubMed: 1296514]
    Annex 4.
    t(1;3)(p13;p13).
    The RCPc (RCP counseling) is a knowledge base extracted from SCD (Structural chromosome data) containing information on 1376 families.
    Aberration: Reciprocal translocation
    Index Terms: Genetic counseling,Reciprocal translocations
    Negative band
  • Dawson A J, Chudley A E.: Reply to correspodence from Shanske and Marion - "mosaic trisomy of a small r(1) with an abnormal phenotype". AJMG DOI=10.1002/ajmg.10491;110:414, 2002.
    Shanske A L, Dowling P, Schmidt R, White B J, Russell B, Bogdanow A, Marion R W.: Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins. J. Med. Genet. 36:625-628, 1999. [PMC free article: PMC1762981] [PubMed: 10465114]
    Shanske A L, Marion R W.: Mosaic trisomy of a small r(1) with an abnormal phenotype. AJMG DOI=10.1002/ajmg.10482;110:413, 2002. [PubMed: 12116223]
    48,XX,+r(1)(p13q21),r(16)(p11q11).ish r(1)(D1Z5+,wcp1+),r(16)(D16Z2+,wcp16+).
    Twin A at 23 months showed microcephaly, growth and developmental delays, and mild dysmorphic features. Twin B has growth retardation, microcephaly, a bifid right thumb, and a left inguinal hernia.
    Aberration: Ring chromosome
  • Dignan P, Krouskop L, 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. 87, 88, and 89.
    46,XY,t(1;11)(p13;p11).&"46,XX and XY,t(1;11)(p13;p11)pat."
    Aberration: Reciprocal translocation
    Negative band
  • Fitzgerald P H, Miethke P M, Caseley R T: Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma. Clin. Genet. 12:155-161, 1977. [PubMed: 908168]
    Patient, 080175, died at 10 months. Parents had normal karyotypes. Suggestion has been made that an undetected common agent was involved in the aetiology of the mother''s tumor and the changes in the karyotype of the patient.
    46,XX,t(1;4;7;12;15)(p13;q21;p13;q22;q22).
    Aberration: Complex translocation
    Index Terms: Cancer
    Negative band
  • Fryns J P, Van den Berghe H: Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. Ann. Genet. 22:125-127, 1979. [PubMed: 316665]
    Family V.D.B. in this report.
    46,XY,t(1;19)(p13;p12).
    Aberration: Reciprocal translocation
    Negative band
  • Garrett J H, Finley S C, Finley W H: Fetal loss and familial chromosome 1 translocation. Clin. Genet. 8:341-348, 1975. [PubMed: 1239343]
    Family B in this report.
    46,XX,t(1;12)(p13;q24).&"46,XY,der(1)der(12)t(1;12)(p13;q24)mat."&Two spontaneous abortions occurred in this family.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Giraldo A, Silva E, Martinez I, Campos C, Guzman J: Pericentric inversion of chromosome 1 in three sterile brothers. Ann. Hum. Genet. 58:226-227, 1981. [PubMed: 7287009]
    46,XY,inv(1)(p13q25).
    Aberration: Inversion pericentric
    Index Terms: Sterility ... male
    Negative band
  • Kohler A: Interstitial deletion in chromosome 1: assignment of the breakpoints. AJMG 47:1144, 1993. [PubMed: 8291536]
    46,XY,del(1)(p13p22.3)de novo.
    The neonate had MCA and developmental delay.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Negative band
  • Howard P N: Familial pericentric inversion of chromosome 1 with a note on reproductive risks. Hum. Genet. 45:123-125, 1978. [PubMed: 738717]
    46,XX,inv(1)(p13q23).&46,XX,inv(1)(p13q23)mat.
    Aberration: Inversion pericentric
    Negative band
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    M. R. C. Registry No. K137-18-67 in this report.
    46,XY,t(1;13)(p13;q22).
    Aberration: Simple translocation
    Negative band
  • Kaiser P: Pericentric inversions-Problems and significance for clinical genetics. Hum. Genet. 68:1-47, 1984. [PubMed: 6389316]
    Families Wa. 10/75 and Treu 92/77.
    inv(1)(p13q21).
    Aberration: Inversion pericentric
    Negative band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 10=46,XX,t(1;6;5)(p13;q14;p13).rev ish dim(6q14q14)de novo
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Complex translocation
  • Kubien E, Kleczkowska A: "Familial translocation t(1p-;21q+) associated with Down''s syndrome." Hum. Genet. 40:341-344, 1978. [PubMed: 147235]
    46,XX,-1,-21,+der(1),+der(21)t(1;21)(p13;q22).&"46,XX,-1,-21,+der(1),+der(21),t(1;21)(1qter -> 1p13::21q22 -> 21qter;21pter -> 21q22::1p13 -> 1pter)."
    Case W. Z. in this report.
    47,XY,-1,+der(1),+der(21),t(1;21)(p13;q22)mat.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Kullmann F, Koch R, Feichtinger W, Giesen H, Schmid M, Grimm T.: Holt-Oram syndrome in combination with reciproke translocation, hypoplasia of the lung and cardiomyopathy. Klin. Padiat. 205:185-189, 1993. [PubMed: 8350593]
    Patient=46,XX,der(1)der(11)t(1;11)(p13;q13)pat.
    The patient was 2 years old with shortness of the humerus, aplasia of the radius, shortness of the ulna and a congenital anlage of four metacarpal bones in fixed malposition. In addition an atrial septal defect of the sinus venosus type with left-to-right shunting was present.
    The translocation was present in the paternal grandfather and an aunt.
    Aberration: Reciprocal translocation
    MIM#: 142900
    Index Terms: Holt-Oram syndrome
  • Lee C S N, Ying K L, Bowen P: Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. AJHG 26:93-102, 1974. [PMC free article: PMC1762559] [PubMed: 4204536]
    46,XX,inv(1)(p13q23).&46,XX,inv(1)(pter -> p13::q23 -> p13::q23 -> qter).
    Aberration: Inversion pericentric
    Negative band
  • Lespinasse J, Bugge M, Rethore M O, North M O, Lundsteen C, Kirchhoff M.: De novo complex chromosome rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder. AJMG DOI=10.1002.ajmg.a.30064, 2004. [PubMed: 15214017]
    The 23-year-old proband was referred because of ovarian dysfunction.
    46,XX,t(1;6;5)(1p13;q14;5p13).ish der(1)t(1;16)(D1Z5+,WCP1+,WCP6+),der(6)t(5;6)(D5S23+,WCP5+,WCP6+),der(5)t(1;5)(WCP1+,WCP5+,D1Z5-).rev ish dim(6q14.1)de novo.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 6q-
    Index Terms: CCR
  • Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]
    Case 5 (referred by Elaine H. Zacakai, CHOP, PA):
    mos46,XY/47,XY+mar[50%].mar(wcp1+).rec ish enh(1)(p13q12)
    Patient was 15 years old with MCA including arthrogryposis.
    Index Terms: CGH
  • Mounoud R L, Klein D, Bettschart W, Cabrol D: A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients. Preliminary results concerning 82 cases of oligophrenia. J. Genet. Hum. 24:297-335, 1976. [PubMed: 1022853]
    Case No. 3: M. Jean-Michel (000059), obs. 74-0011 in this report.
    46,XY,inv(1)(p13q21).&46,XY,inv(1)(pter -> p13::q21 -> p13::q21 -> qter).
    Aberration: Inversion pericentric
    Index Terms: Oligophrenia
    Negative band
  • Muneer R S, Himes J, Rennert O M: Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication. AJMG 31:33-37, 1988. [PubMed: 3066220]
    46,XX,-1,-5,-8,-9,+der(1)t(1;5;9)(5qter -> 5q31::1p13 -> 1q41::9qter),+der(5),t(5;9)(5pter -> 5q13::9p22 -> 9pter), +der(8),t(1;8)(8pter -> 8q12::1p13 -> 1pter),+der(9),t(1;9;9;5;8)(1qter -> 1q41::9q22 -> 9q34::9p13 -> 9q34::5q13 -> 5q22::8q12 -> 8qter).
    Patient was 27 years old, mentally retarded and with other anomalies.
    Karyotype is abnormal in the sense that there is deletion of 5q22 to 5q31, 9p13 to 9p22, and duplication of 9q22 to 9q34.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 5q-,9p-,9q+
    Negative band
  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XY,inv(1)(p13q11).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Schwanitz G, Schmid P, Hagele C, Daffner H W, Grosse K P: Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation. Acta Genet. Med. Gemellol. 26:173-175, 1977. [PubMed: 596113]
    Patient Volker, M. (230672) in this report.
    46,XY,inv(1)(p13 q25)+del(q22 -> q25).&46,XY,inv(1)(pter -> p13::q22 -> p13::q25 -> qter).&The 3-3/4 year-old patient had multiple congenital anomalies including: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, bilateral inguinal hernia, undescended but normal-sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6 - 12 months and slight osteoporosis.
    Aberration: Inversion pericentric
    Index Terms: Chin ... small,Hand ... anomalies,Hernia ... inguinal,Hypotonia,Joints ... hyperextensibility,Occiput ... prominent,Ossification,Palate ... high arched,Testes ... undescended (cryptorchidism)
    Negative band
  • Sherman S L, Iselius L, Gallano P, Buckton K E, Collyer S, DeMey R, Kristoffersson U, Lindsten J, Mikkelsen M, Morton N E, Nordensson I, Petersen M B, Wahlstrom J: Segregation analysis of balanced pericentric inversions in pedigree data. Clin. Genet. 30:87-94, 1986. [PubMed: 3757307]
    See comments by Stene, J, in Clin. Genet. 31:355-357, 1987.
    inv(1)(p13q21).
    Aberration: Inversion pericentric
    Negative band
  • Syrett J E, Gray J E, Grace E, Bowser-Riley S M, Cook P J L, Robson E B, Teesdale P W: Two informative 1p translocation families. BD-OAS XI(No. 3):269-271, 1975.
    Subject MRC 1880 in this report.
    46,XY,t(1;16)(p13;q13).
    Aberration: Simple translocation
    Negative band
  • Uehara S, Takabayashi T, Takeyama Y, Okamura K, Yajima A.: Familial pericentric inversion incidentally detected at prenatal diagnosis. Jpn. J. Hum. Genet. 40:259-263, 1995. [PubMed: 8527800]
    46,XY,der inv(1)(p13q23)pat.
    No problems in the family.
    Aberration: Inversion pericentric
    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,XY,t(1;2)(p13;q32).&"46,XY,t(1;4)(p13;q12)."
    Aberration: Reciprocal translocation
    Negative band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    46,XY,t(1;15)(p13;q15).
    Short stature.
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105482
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