05q350

5q35

Publication Details

  • Al Saadi A A, Moghadam H A: Partial trisomy of the long arm of chromosome 7. Clin. Genet. 9:250-254, 1976. [PubMed: 1248183]
    46,XX,t(5;7)(5pter->5q35::7q31->7qter;7pter->7q31::5q35->5qter).,The breakpoint assignment at 5q35 is tentative.,46,XX and XY,der(5)der(7)t(5;7)(q35;q31)mat.,46,XY,der(5)t(5;7)(q35;q31)pat.
    Mother of this patient is thought to have had some early pregnancy wastage. The patient is trisomic for region 7q31->7qter. Comparison with other cases of 7q trisomy suggests that common malformations are: cleft palate, micrognathia, low-set and malformed ears, hypertelorism and large tongue.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-;7q+
    Index Terms: Cleft lip/palate,Ears ... low-set malformed,Fetal wastage (Habitual recurrent, spontaneous abortion),Hypertelorism,Micrognathia

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 18434 in this report.
    46,XX,t(5;15)(5pter->5q35::15q11->15qter;15pter->15q11::5q35->5qter).
    Aberration: Reciprocal translocation
    Negative band

  • Baekvad-Hansen M, Turner Z, Delicado A, Erdogan F, Tommerup N, Larsen L A.: Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. AJMG DOI=10.1002/ajmg.a.31087; 140A:427-433, 2006. [PubMed: 16470726]
    Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman J A, Larsen L A, Tumer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F.: Mapping of 5q35 chromosomal rearrngements within a genomically unstable region. J. Med. Genet. 45: 672-678, 2008. [PubMed: 18628311]
    46,XY,inv(5)(q13q35)de novo, del(5)(q35.1-q35.2)
    The patient had atrioventricular (AV) conduction defect, ASD, and tricuspid-valve malformation (Ebstein anomaly) in addition to microcephaly, scoliosis, and pectoral hypoplasia. Patient, now 15 years old, attends regular school.
    Aberration: IP,ID
    Chromosomal Aneuploidy: 5q-

  • Same entry as in 01q210,01q230,02p120,04q220 (Boue and Gallano, 1984).

  • 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(5;13)(q35;q22); t(5;15)(q35;q13); t(5;15)(q35;q15).
    Aberration: Reciprocal translocation
    Negative band

  • Boue J, Boue A: L''interet en diagnostic prenatal des techniques nouvelles d''identification chromosomique dans des translocations et une aneusomie de recombinaison. La Nouv. Presse Med. 2:3097-3102, 1973. [PubMed: 4595679]
    Observation No. 1094 in this report.
    46,XX,t(5;10)(q35;q22).
    Aberration: Simple translocation
    Negative band

  • Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]
    Family and Pedigree No. 5
    46,XX,t(2;3)(q23 or q31;q27 or q29),t(5;6)(q35;p21).
    32 year old woman with history of pregnancy losses(3).
    Aberration: Reciprocal translocation
    Negative band

  • Broustet A, Serville F D, Meynie M, Moulinier J, Moretti G: Cytogenetic study of 30 couples who had several spontaneous abortions. Sem. Hop. Paris 51:299-302, 1975. [PubMed: 169572]
    46,XY,t(5;6)(5pter->5q35::6q21->6qter;6pter->6q21::5q35->5qter).,46,XX,der(5)der(6)t(5;6)(q35;q21)pat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Chen M F, Vekemans M J J, Meagher-Villemure K, Outerbridge E, Fraser F C, Der Kaloustian V M: Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10. AJMG 37:478-481, 1990. [PubMed: 2260592]
    Skin:mos46,XX[5]/ 46,XX,t(5;10)(q35;q22)[45].,Blood:46,XX[50].
    A baby was born with features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy.
    Aberration: Reciprocal translocation
    Index Terms: Aminopterin syndrome (ASSA)
    Negative 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. 545.
    46,XY,t(5;8)(q35;q21)mat.
    Aberration: Reciprocal translocation
    Negative band

  • de Albuquerque Coelho K-E F, Egashira M, Kato R, Fujimoto M, Matsumoto N, Rerkamnuaychoke B, Abe K, Harada N, Ohashi H, Fukushima Y, Niikawa N. : Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting. AJMG 63:468-471, 1996. [PubMed: 8737654]
    Case 1:
    46,XX,dup(5)(q35->qter).
    The patient was studied because of MCA/MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: 5q+
    Negative band

  • Delague V, Souaid M, Chouery E, Depetris D, Sanlaville D, Mattei M-G, Megarbane A.: Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2005.04.022, 2005. [PubMed: 16530708]
    Family 3:
    Father=46,XY,t(5;6)(q35;p25).,46,XX(orY),der(6)t(5;6)(q35;p25)apt.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+;6p-

  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(5;7)(q35;q11).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Howell R T, McDermott A, Evans J L: A new apparently folate sensitive fragile site, 5q35. J. Med. Genet. 27:527-528, 1990. [PMC free article: PMC1017205] [PubMed: 2213847]
    Aberration: Fragile sites
    Negative band

  • Hunter A G W, Dupont B, McLaughlin M, Hinton L, Baker E, Ades L, Haan E, Schwartz C E.: The Hunter-McAlpine syndrome results from duplication 5q35-qter. Clin. Genet. 67:53-60, 2005. [PubMed: 15617549]
    Family U:
    46,XY,add(13)(p11.2).ish der(13)t(5;13)(q35;p11.2).
    Patient GW, reported as Patient GH by Ades et al.
    46,XX.ish der(1)t(1;5)(q44;q35.3)(PAC160H23-,PAC240G13+)de novo.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 5q+
    Index Terms: Hunter-McAlpine syndrome,Ruvalcaba syndrome

  • Imaizumi K, Kimura J, Kurosawa K, Masuno M, Niikawa N, Kuroki Y.: Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). AJMG DOI=10.1002/ajmg.10080;107:58-60, 2002. [PubMed: 11807869]
    Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K.: Sotos syndrome and haploinsufficinecy of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J. Med. Genet. 40:285-289, 2003. [PMC free article: PMC1735419] [PubMed: 12676901]
    The patient was 15 months old.
    46,XX,t(5;8)(q35;q24.1)de novo
    Imaizumi et al suggest that 5q35 may be the region that may be harboring genes governing some of the facial characteristics of Sotos syndrome. Nagai et al studied 5 patients with heterozygous NSD1 point mutations and 21 patients with heterozygous submicroscopic deletions involving the entire NSD1 gene, and suggest that clinical features in Sotos syndrome can be classified into two major categories, those primarily caused by NSD1 haploinsufficiency and those primarily ascribed to some factors, such as the dosage effects of genes other than NSD1, involved in the deletion.
    Aberration: RT,ID
    MIM#: 117550
    Index Terms: Sotos syndrome, NSD1

  • Karadeniz N, Zenciroglu A, YavruzGurer Y K, Senbil N, Karadeniz Y, Topalolu H.: De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome. AJMG 109:67-69, 2002. [PubMed: 11932995]
    46,XX,t(5;6)(q35;q21)de novo
    The infant died at the age of 3 months. She had showed generalized hypotonia, decreased grasping and Moro reflexes, hypoactive deep tendon reflex on all extremities, and bilateral limitation of hip abduction.
    Aberration: Reciprocal translocation
    MIM#: 236670
    Index Terms: Walker-Warburg syndrome

  • Kreiger D, Palmer C G, Biegel A: Human autosomal deletion mapping and HL-A. Humangenetik 23:159-160, 1974. [PubMed: 4852303]
    46,XY,t(5;?)(q35;?).
    Aberration: Simple translocation
    Negative band

  • Lancet M, Sindel L, Segal I: Familial 5/14 translocation with triple X and 47,XY,+14q-. Clin. Genet. 20:40-43, 1981. [PubMed: 7296947]
    46,XY,t(5,14)(q35;q22).,46,XX,der(5)der(14)t(5;14)(q35;q22)pat.,47,XXX,der(5)der(14)t(5;14)(q35;q22)mat.,The proband was investigated because of a history of spontaneous (4) abortions. One of the abortuses had an abnormal karyotype:47,XY,+der(14)t(5;14)(q35;q22)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 14q+
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Mann J, Wcislo 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. 538.
    46,XX,t(5;6)(q35;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Maroun C, Schmerler S, Hutcheon R G: "Child with Sotos phenotype and a 5;15 translocation." AJMG 50:291-293, 1994. [PubMed: 8042674]
    46,XX,t(5;15)(q35;q22)de novo.
    Patient was 4 years old.
    Aberration: Simple translocation
    MIM#: 117550
    Index Terms: Sotos syndrome
    Negative band

  • McCorquodale 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. 635
    46,XX,t(5;19)(q35;p13)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Murdock R L, Wurster-Hill D H: "Non-reciprocal translocation (5;15), isodicentric (15) and Prader-Willi syndrome." AJMG 25:61-69, 1986. [PubMed: 3799724]
    Patient was 28 years old.
    46,XY,-5,-15,+der(5)t(5;15)(5pter->5q35::15q13->15qter),+idic(15)(pter->q1?3::q1?3->pter).
    Aberration: Dicentric chromosome
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Negative band

  • Park V M, Gustashaw K M, Wathen T M: The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. AJHG 50:914-923, 1992. [PMC free article: PMC1682611] [PubMed: 1570843]
    Case 2:
    45,XY,-5,-15,+der(5)t(5;15)(qter;q13).
    The patient referred with a diagnosis of Prader-Willi syndrome in his adolescence.
    Aberration: Simple translocation
    Index Terms: Telomer ... sequences, interstitial
    Negative band

  • Patil S 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. 546.
    46,XX,t(5;8)(q35;q24)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Pezzolo A, Biococchi M P, Zampatti C, Cuoco C, Gimelli G: Prenatal diagnosis of a partial 8p trisomy. Prenat. Diag. 10:533-538, 1990. [PubMed: 2267231]
    Mother:46,XX,t(5;8)(q35;p11).,Proband:46,XX,der(5),t(5;8)(5pter->5q35::8p11->8pter)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 8p+
    Negative band

  • Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer G B, Splitt M, Temple I K, Waggoner D, Weaver D D, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N, on behalf of the Child Overgrowth Collaboration.: Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J. Med. Genet. 42:307-313, 2005. [PMC free article: PMC1736029] [PubMed: 15805156]
    Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole T R P, Das S, Horn D, Hughes H E, Temple I K, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N, for the Childhood Overgrowth Collaboration. : Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. AJHG 77:193-204, 2005. [PMC free article: PMC1224542] [PubMed: 15942875]
    Only 13 familial cases were identified. The reasons for low vertical transmission rate are unclear, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness. Patients with microdeletions had less-prominent overgrowth and more learning disability than patients with mutations. There was no correlation between deletion size and the clinical phenotype.
    23/471 cases of NSD1 mutations and deletions, screened were 5q35 microdeletions ranging from 0.4 to 5Mb.
    In most instances, the microdeletions arose through interchromosomal rearrangements of the paternally inherited chromosome.
    Aberration: Interstitial deletion
    MIM#: 117550
    Chromosomal Aneuploidy: 5q-
    Index Terms: Sotos syndrome, NSD1

  • Tho S P T, Byrd J R, McDonough P G: Chromosome polymorphism in 110 couples with reproductive failure and subsequent pregnancy outcome. Fert. Ster. 38:688-694, 1982. [PubMed: 7141010]
    Case 15.
    46,XX,t(5;6)(q35;q24).
    Aberration: Simple translocation
    Negative band

  • 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. 553.
    46,XY,t(5;9)(q35;p13)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Uchiyama A, Haneda N, Saito K, Miyamoto S, Takusa Y, Kanai R, Kimura M, Sejima H, Yamaguchi S.: A girl with partial trisomy 5q35->5qter and partial trisomy 13pter->q31 derived via a maternal balanced translocation. Europ. J. Ped. 161:360-361, 2002. [PubMed: 12029462]
    Mother=46,XX,t(5;13)(q35;q31).,47,XX,+der(13)t(5;13)(13pter->13q31::5q35->5qter)mat.
    Intrauterine anomalies were seen. The patient was 2 years and 8 months old, and has MCA; severe psychomotor and growth retardation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q+;13q+

  • Yuksel M, Jones L A, Taysi K, Henry C G: Partial trisomy of short arm of chromosome 6: a case due to paternal balanced translocation. Turk. J. Pediat. 22:65-71, 1980. [PubMed: 7196100]
    46,XY,t(5;6)(q35;p22).,46,XX,der(5)t(5;6)(5pter->5q35::6p22->6pter)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5q-;6p+