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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show 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 translocationChromosomal 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 translocationNegative 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,IDChromosomal 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 translocationNegative 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 translocationNegative 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. 546,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 translocationNegative 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 translocationIndex 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 translocationIndex 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 translocationNegative 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: DuplicationChromosomal 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 translocationChromosomal 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 translocationIndex 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 sitesNegative 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 translocationMIM#: 180870,601379Chromosomal 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 novoImaizumi 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,IDMIM#: 117550Index 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 novoThe 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 translocationMIM#: 236670Index 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 translocationNegative 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 translocationChromosomal 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 translocationNegative 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 translocationMIM#: 117550Index Terms: Sotos syndromeNegative 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. 63546,XX,t(5;19)(q35;p13)pat.Aberration: Reciprocal translocationNegative 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 chromosomeMIM#: 176270Index 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 translocationIndex Terms: Telomer ... sequences, interstitialNegative 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 translocationNegative 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 translocationChromosomal 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 deletionMIM#: 117550Chromosomal 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 translocationNegative 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 translocationNegative 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 translocationChromosomal 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 translocationChromosomal Aneuploidy: 5q-;6p+
- 05q350 - Chromosomal Variation in Man05q350 - Chromosomal Variation in Man
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