01q410

1q41

Publication Details

  • Beemer F A, Klep-de-Pater J M, Sepers G J, Janssen B: Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 to q25) and del(1)(q41 to q43). Clin. Genet. 27:515-519, 1985. [PubMed: 4006278]
    Parental karyotypes were normal.
    Patient 2.
    46,XY,del(1)(pter -> q41::q43 -> qter).
    Aberration: Interstitial deletion
    Positive 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)(q41;q11).
    Aberration: Reciprocal translocation
    Positive band

  • Dar H, Bar-El H, Ziv M, Shapiro I. : New Heritable fragile site with spontaneous expression at 1q41. AJMG 55:145-146, 1995. [PubMed: 7717412]
    The family was ascertained because of recurrent abortions and the FS was present in the mother and her son.
    Aberration: Fragile sites
    Positive band

  • Emberger W, Petek E, Kroisel P M, Zierler H, Wagner K.: Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome. AJMG DOI=10.1002/ajmg.10096, 2001. [PubMed: 11754067]
    Case LN=46,XX,der(8)t(1;8)(q41;p23.3).,Case WK=46,XX,der(5)(5qter->5p13.1::1q41->1qter)de novo.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+;5p-;8p-

  • Kulikowski L D, Christ L A, Nogueira S I, Brunoni D, Schwartz S, Melaragno M I.: Breakpoint mapping in a case of mosaicism with partial monosomy 9p23->pter and partial trisomy 1q41->qter suggests neo-telomere formation in stabilizing the deleted chromosome. AJMG 140A:82-87, 2006. [PubMed: 16333825]
    46,XX,del(9)(p23)[54]/46,XX,der(9)t(1;9)(q41;p23)[46].
    The 9 year old was referred for mild MR and facial anomalies.
    The 9p loss is estimated to be approximately 13.9-Mb, and the 1q duplicated segment to be 35 Mb.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q+;9p-
    Index Terms: Neo-telomere

  • Polityko A, Starke H, Rumyantseva N, Claussen U, Liehr T, Raskin S.: Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenet. Genome Res. 111:171-174, 2005. [PubMed: 16103660]
    Patient B:
    46,XX,inv dup(1)(q41q44).
    Patient was 1 8/12 years old with dysmorphic features and growth delay.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,t(1;7)(q41;q32).
    Aberration: Reciprocal translocation
    Positive band

  • Rasmussen S A, Frias J L, Lafer C Z, Eunpu D L, Zackai E H: Partial duplication 1q: Report of four patients and review of the literature. AJMG 36:137-143, 1990. [PubMed: 2368800]
    Patient 1 (UF#:43-48-74).
    46,XX,-10,+der(10),t(1;10)(q41;q26)pat.&"46,XY,t(1;10)(q41;q26)."
    No consistent phenotype seems to be associated with this chromosomal abnormality.
    Patient 3 (UHJ#:0422333-1);JT.
    46,XY,-4,+der(4),t(1;4)(q41;q34)pat.&"46,XY,t(1;4)(q41;q34)."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+
    Positive band

  • Rotmensch S, Liberati M, Luo J S, Tallni G, Mahoney M J, Hobbins J C: Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41). Prenat. Diag. 11:867-873, 1991. [PubMed: 1754557]
    46,XX,del(1)(pter->q41:)de novo.
    The pregnancy was terminated at 21 weeks. Fetus showed MCA and weighed 250g.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Positive 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,t(1;4)(q41;p15).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • Smith S A, Martin K E, Dodd K L, Young I D.: Severe microphthalmia, diaphragmatic hernia and Fallot''s tetralogy associated with a chromosome 1;15 translocation. Clin. Dysmorphol. 3:287-291, 1994. [PubMed: 7894732]
    46,XY,t(1;15)(q41;q21.2)de novo
    The patient was 9 years old with MCA including: severe bilateral microphthalmia, diaphragmatic hernia and tetralogy of Fallot.
    Aberration: Reciprocal translocation
    MIM#: 187500
    Index Terms: Tetralogy of Fallot

  • Stamberg J, Keiles 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. 146.
    46,XY,-17,+der(17),t(1;17)(q41;p13)pat.
    Aberration: Reciprocal translocation
    Positive band

  • Teyssier M, Moreau N: Etude chez trois sujets steriles de translocations impliquant le chromosome 1. Bull. Assoc. Anat. 66:263-272, 1982. [PubMed: 7150787]
    t(1;10)(q41;q21).
    Aberration: Reciprocal translocation
    Index Terms: Sterility
    Positive band

  • Vauhkonen A E, Sankila E M, Simola K O J, de la Chapelle A: "Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1)." AJHG 37:533-542, 1985. [PMC free article: PMC1684586] [PubMed: 4003397]
    46,XX or XY,der(1)der(8)t(1;8)(q41;q23.1)mat or pat.&The translocation can be traced back to at least 11 generations and no examples of unbalanced karyotypes were encountered. Ratio of carriers to normals was 17 to 7 and there were significantly more spontaneous abortions.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band

  • Verbraak F D, Pogany K, Pilon J-W, Mooy C M, de France H F, Hennekam R C M, Bleeker-Wagemakers E M.: Congenital glaucoma in a child with partial 1q duplication and 9p deletion. Ophthal. Paediat. Genet. 13:165-170, 1992. [PubMed: 1484694]
    46,XX,der(9)t(1;9)(9qter->9p24::1q41->1qter).
    The infant had several dysmorphic features including trigonocephaly, palatoschisis, a large atrial septal defect, a proptosis on b oth sides, hazy corneas, and congenital glaucoma.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q+;9P-
    Index Terms: Glaucoma congenital