01p110

1p11

Publication Details

  • Barros A, Carmo Tavares M, Castedo S, Salome Pereira M, Purificacao Tavares M, Almeida e Costa M: A complex balanced chromosomal rearrangement in repeated abortions. Hum. Genet. 75:388-390, 1987. [PubMed: 3570293]
    46,XY,t(1;19;6;14)(1qter -> 1p11::19p11 -> 19pter;19qter -> 19p11::1p11 -> 1pter;6pter -> 6q25::14q21 -> 14qter; 14pter -> 14q21::6q25 -> 6qter)mat.
    Aberration: Double translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Variable 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)(p11;p11); t(1;11)(p11;q11); t(1;16)(p11;q11); t(1;21)(p11;p12); inv(1)(p11q21).
    Aberration: PI,RT
    Variable band

  • Crandall B, 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. 157.
    46,XX,t(1;19)(p11;p11).
    Aberration: Whole-arm translocations
    Variable band

  • Dhellemmes C, Choiset A, Narbouton R, Girard S, Tapia S, Thepot F, Sarrut S: Interstitial dup(1p) and severe intrauterine growth retardation. Ann. Genet. 31:129-131, 1988. [PubMed: 3261150]
    46,XX,inv dup(1)(pter -> p31::p11 -> p31::p31 -> qter).
    Patient died after 6 weeks; birth weight 1860g, with 38 weeks gestation, first karyotyped because of oligohydramnios; microcephaly, cleft palate, and facial dysmorphism.
    Parental karyotypes were normal.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Variable band

  • Howard-Peebles P N, 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. 73
    46,XY,t(1;8)(p11;p23).
    Aberration: Reciprocal translocation
    Variable band

  • Jackson L G, 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. 166.
    46,XX,t(1;21)(p11;p11).
    Aberration: Whole-arm translocations
    Variable band

  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient C95/904:
    46,XY,t(1;21)1qter->1p11::21q11.2->21qter),t(1;9;21),(21pter->21q11.1::1p12->1p34.1?::9p21->9p21::1p34.1?->1pter),,del(9)(pter->p24::p21->qter)de novo
    Patient was 30 years with severe OAT.
    Aberration: Reciprocal translocation
    Index Terms: ICSI

  • Saller D N, Keene C L, Sun C C, Schwartz S: The association of single umbilical artery with cytogenetically abnormal pregnancies. Am. J. Obstet. Gynecol. 163:922-925, 1990. [PubMed: 2403169]
    46,XX,t(1;19)(p11;p11)/ 47,XX,t(1;19)(p11;p11),+der(1),t(1;19)(p11;p11).
    Aberration: Whole-arm translocations
    Index Terms: Single umbilical artery
    Variable 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]
    inv(1)(p11q21).
    Aberration: Inversion pericentric
    Variable 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]
    Smith A, Murray R, den Dulk G: Two whole arm reciprocal translocations. J. Med. Genet. 25:61, 1988. [PMC free article: PMC1015427] [PubMed: 3351895]
    Case 1, 24 years old, 7 early miscarriages, but subsequently had normal babies.
    46,XX,t(1;5)(p11;cen).
    Case 5, PG
    46,XX,t(1;5)(1p5q;5p1q)de novo.
    Aberration: Whole-arm translocations
    Variable band

  • 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 DD8503641:
    46,XX,t(1;19)(p11;q11)pat.
    Case ascertained via prenatal diagnosis.
    Aberration: RT,WT