01q430

1q43

Publication Details

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 1:
    t(1;2)(q43;q33)pat.,46,XY,der(1),t(1;2).,46,XY,t(1;2)-fetal.
    Family was ascertained because of an infant with an unbalanced karyotype.
    Family No. 4:
    t(1;9)(q43;q22)mat.,47,XX,+9,t(1;9).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 1q-;2q+
    Index Terms: Risk estimates
    Positive band

  • Barjaktarovic N, Joksic G, Kostic V, Popovic K: "Partial trisomy 2q+ as a result of a balanced translocation (1;2)(q43;q33)." Hum. Genet. 71:273, 1985. [PubMed: 4065900]
    46,XY,t(1;2)(q43;q33).&"46,XX and XY,der(1)der(2)t(1;2)(q43;q33)pat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q+
    Positive band

  • Bartsch O, Loitzsch A, Kozlowski P, Mazauric M-L, Hickmann G.: Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies. Europ. J. Hum. Genet. 13:1192-1204, 2005. [PubMed: 16077735]
    Spiegel M, Hickmann G, Senger G, Kozlowski P, Bartsch O.: Two new cases of analphoid marker chromosomes. AJMG 116A:284-289, 2003. [PubMed: 12503108]
    Case 1=47,XY,+mar. rev ish and ish r(1)(:q43->q44:)(wcp1+,D1Z5-,D1Z7/D5Z1/D19Z3-,D1S555/D1Z9-)de novo/46,XY.,Case 13 in 2005 report=47,XY,+mar/46,XY.rev ish and ish r(1)(q43q44)(wcp1+,D1Z5-,D1Z7/D5Z2/D19Z3-,D1S555/D1Z9-)[50%].
    Ascertained during prenatal diagnosis. Normal at birth and normal development (reported by mother) at the age of 6 months.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 1q+
    Index Terms: SMC,Analphoid chromosomes

  • 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;4)(q43;q25); t(1;6)(q43;q21).
    Aberration: Reciprocal translocation
    Positive band

  • Garani G P, Tamisari L, Volpato S, Vigi V: Terminal deletion of chromosome 1(q43) in a female infant. J. Med. Genet. 25:211-212, 1988. [PMC free article: PMC1015493] [PubMed: 3351913]
    Patient was 3 years old.
    46,XX,del(1)(pter -> q43:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Positive band

  • Ioan D M, Maximilian C, Kleczkowska A, Fryns J P: Distal deletion of the long arm of chromosome number 1 (q43 to qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome. Ann. Genet. 35:167-169, 1992. [PubMed: 1466567]
    46,XX,del(1)(pter -> q43:)de novo.
    Patient was 6 8/12 years old with MCA/MR.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Positive 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. 37
    46,XY,t(1;4)(q43;p13).
    Aberration: Reciprocal translocation
    Positive band

  • Juberg R C, Haney N R, Stallard R: New deletion syndrome: 1q43. AJHG 33:455-463, 1981. [PMC free article: PMC1685032] [PubMed: 7246546]
    46,XX,t(1;16)(q43;q24).
    Patient J.B.S., 160778, with dysmorphology of the head and face, neck, extremities and genitalia, as well as growth and mental retardation.
    46,XY,-1,+der(1),t(1;16)(1pter -> 1q43::16q24 -> 16qter).
    Aberration: Simple translocation
    Index Terms: Facial dysmorphism,Genitalia ... anomalies,Neck ... anomalies
    Positive band

  • Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna A L, Kanemoto K, Gentile M.: Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Europ. J. Med. Genet. 49: 247-253, 2006. [PubMed: 16762826]
    46,XX,del(1)(q43)
    A 3 year-old patient with microcephaly, micrognathia, and short neck and sparse hair is described.
    The deleted region is about 5.4 Mb in size.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Left ventricular noncompaction myocardium

  • Li L Y, Xia J H, Dai H P, Xu F M, He X X, Xu J: Chromosome analysis of 2,319 cases in genetic counseling clinic. Chin. Med. J 99:527-534, 1986. [PubMed: 3100199]
    46,XY,t(1;4)(q43;q25).
    Aberration: Simple translocation
    Positive band

  • Mankinen C B, Sears J W, Alvarez V R: Terminal (1)(q43) long-arm deletion of chromosome No. 1 in a three-year-old female. BD-OAS XII(No. 5):131-136, 1976. [PubMed: 953213]
    46,XX,del(1q43).
    Aberration: Terminal deletion
    Positive band

  • Martinetti J, Noel B: Remaniement complexe de novo touchant quatre chromosomes chez un nouveau-ne. Ann. Genet. 16:285-288, 1973. [PubMed: 4544095]
    46,XX,inv ins(8)(p22q21),t(1;5;9)(q43;p14q15;p21).&"46,XX,inv ins(8)(pter -> p22::q21 -> p22::q21 -> qter),t(1;5;9)(1pter -> 1q43::5q15 -> 5qter;9pter -> 9p21::5p14 -> 5q15::1q44 -> 1qter;9qter -> 9p21::5p14 -> 5pter)."
    Aberration: Complex translocation
    Positive band

  • Menks Ribeiro M C, Brunoni D: Terminal deletion 1q43 in a newborn with hydrocephalus. Ann. Genet. 30:126-128, 1987. [PubMed: 3499845]
    Patient was a newborn.
    46,XY,del(1)(q43 -> qter)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Hydrocephalus
    Positive band

  • Murayama K, Greenwood R S, Rao K W, Aylsworth A S: Neurological aspects of del(1q) syndrome. AJMG 40:488-492, 1991. [PubMed: 1746617]
    Three patients with de novo terminal deletion were studied.
    46,XX,del(1)(pter -> q43:)de novo.
    All three patients showed autistic-like behavior.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Neurological,Autis(m)(tic)
    Positive band

  • Reed T, Milatovich A: Dermatoglyphic findings in chromosome 1 long arm deletions. AJMG 29:685-689, 1988. [PubMed: 3377014]
    Patient 1 was 9 months old.
    46,XX,del(1)(pter -> q43:).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Positive band

  • Reiss J A, Sheffield L J, Sutherland G R: Partial trisomy 3p syndrome. Clin. Genet. 30:50-58, 1986. [PubMed: 3757296]
    Case 1 was aneuploid and the family was investigated for carrier status.
    46,XX or XY,t(1;3)(q43;p21).&"46,XY,-1,+der(1)t(1;3)(q43;p21)mat."&"46,XY,-1,+der(1),t(1;3)(1pter -> 1q43::3p21 -> 3pter)pat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p+
    Positive band

  • Schonberg S, Golbus M 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. 102
    46,XX,-1,+der(1),t(1;12)(q43;p13)mat.
    Aberration: Reciprocal translocation
    Positive band

  • Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tonnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T.: A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature. Europ. J. Pediat. DOI=10.1007/s00431-003-1254-3, 2003. [PubMed: 12819962]
    46,XX,t(1;4;2;11)de novo.ish t(1;4;2;11),(1pter->1q43::11p14.1->11pter;4pter->4q21.1::1q43->1qter,2qter->2p12-p13.1::4q21.1->4ter,11qter->11p14.1::2p12-p13.1->2pter).
    The 7 year old patient had MCA and developmental retardation.
    Aberration: Complex translocation

  • Skovby F, Niebuhr E: Presumably balanced translocation, involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals. Ann. Genet. 17:243-249, 1974. [PubMed: 4141591]
    Case II FC (310848) in this report.
    46,XY,t(1;4)(q43;q22).&"46,XY,t(1;4)(1pter -> 1q43::4q22 -> 4qter;4pter -> 4q22::1q43 -> 1qter)."
    Aberration: Reciprocal translocation
    Positive band

  • Spikes A S, Hegmann K, Smith J L, Shaffer L G.: Use of fluorescence in situ hybridization to clarify a complex chromosomal rearrangement in a child with multiple congenital anomalies. AJMG 57:31-34, 1995. [PubMed: 7645595]
    46,XX,t(1;8)(1pter->1q43::8q13->8qter;1qter->1q43::8p12->8p13::9p21->9pter;8pter->8p12::9p21->9qter),rcp ins(4;7)(4pter->4q21.3::7q22->7q31.2::4q25->4qter;7pter->7q22::4q21.3->4q25::7q31.2->7qter),del(12)(pter->q13.3::q21.1->qter).
    Patient was karyotyped at birth because of MCA but was restudied with FISH technique.
    Aberration: Complex translocation
    Positive band

  • Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N: Parental chromosome translocations and fetal loss. Obst. Gynecol. 58:456-458, 1981. [PubMed: 7279340]
    This couple had 2 abortions and a son with MCA.
    46,XY,t(1;7)(q43;q22).,"46,XY,-1,+der(1)t(1;7)(q43;q22)mat."
    Aberration: Simple translocation
    Positive band

  • Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher M R.: Multiplex-FISH for pre- and postnatal diagnostic applications. AJHG 65:448-462, 1999. [PMC free article: PMC1377944] [PubMed: 10417288]
    Patient 26 was ascertained because of MR and dysmorphic features.
    46,XX,der(1)t(1;12)(q43;p13)
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 1q-;12p+

  • van Bon BWM, Koolen D A, Borgatti R, Magee A: Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J. Med. Genet. 45: 346-354, 2008. [PubMed: 18178631]
    Data on 13 patients are presented.
    These authors report a critical region for corpus callosum abnormalities of 360 kb in 1q44 harboring four genes, namely C1orf100, ADSS, C1orf101, and PNAS-4.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: Corpus callosum agenesis/hypogenesis

  • 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,XX,t(1;2)(q43;p24).
    Aberration: Reciprocal translocation
    Positive band

  • Warner A A, Pettenati M J, Burton B K: Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein. Obst. Gynecol. 75:64-66, 1990. [PubMed: 1688649]
    46,XX,del(1)(q43)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 1q-
    Index Terms: MSAFP
    Positive band

  • Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche F A, Fryns J-P.: Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat. Diag. 22:29-33, 2002. [PubMed: 11810646]
    46,XY,add(1)(q43).