46,XY,t(1;11) (p22.3;q23.3) |
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1 |
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1p22 |
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Duplication; deletion |
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|
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Kabuki makeup syndrome Goldenhar syndrome |
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Lo et al. 1998;2222 Lo IF, Cheung LY, Ng AY, Lam ST. Interstitial Dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet. 1998; 78(1):55-7.
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Carllier et al. 20082323 Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D’Athis P, e tal. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. Am J Med Genet A. 2008; 146A(16):2109-15.
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11q23.3-qter |
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Trisomy; deletion; monosomy |
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- |
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Dandy Walker variant |
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Weimer et al. 2006;2424 Ounap K, Bartsch O, Uibo O, Laidre P. Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter. Am J Med Genet. 2002; 108(4):322-6.
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Ounap et al. 20022525 Weimer J, Cohen M, Wiedemann U, Heinrich U, Jonat W, Arnold N. Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant. Cytogenet Genome Res. 2006; 114(3-4):235-9.
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46,XX,inv(2) |
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1 |
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2p24-pter; 2p24; |
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Trisomy; balanced |
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- |
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- |
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Match et al. 2007;2626 Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype. Genet Couns. 2007; 18(1):9-16.
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(p24q22) |
2p24.2-p25.1; |
translocation |
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Talisseti et al. 2003;2727 Talisetti A, Forrester SR, Gregory D, Johnson L, Schneider MC, Kimonis VE. Temtamy-like syndrome associated with translocation of 2p24 and 9q32. Clin Dysmorphol. 2003; 12(3):175-7.
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2p24.3-pter |
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|
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Roggenbuck et al. 20012828 Roggenbuck JA, Fink JM, Mendelsohn NJ. Unique case of trisomy 2p24.3-pter with no associated monosomy. Am J Med Genet. 2001; 101(1):50-4.
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2q22; |
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Deletion |
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ZEB2
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Mowat-Wilson |
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Balasubramanian et al. 2010;2929 Balasubramaniam S, Keng WT, Ngu LH, Goossens MJ, Giurgea I. Mowat-Wilson syndrome: the first two Malaysian cases. Singapore Med J. 2010; 51(3):e54-7. Ballarati et al. 2009;3030 Ballarati L, Recalcati MP, Bedeschi MF, Lalatta F, Valtorta C, Bellini M, et al. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient. Eur J Med Genet. 2009; 52(4):218-23.
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2q22.2;2q22-q23; |
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syndrome |
2q22-q24.2 |
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|
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Saunders et al. 20093131 Saunders CJ, Zhao W, Ardinger HH. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A. 2009; 149A(11):2527-31.
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46,XY,inv(3) |
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1 |
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3p13; 3p13-p12 |
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Inversion |
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- |
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Bardet-Biedl syndrome |
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Héron et al. 2005;3232 Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, et al. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A. 2005; 132A(3):283-7.
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(p13q26.2) |
Ghadami et al. 20003333 Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, et al. Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. Am J Med Genet. 2000; 94(5):433-7.
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3q26.2-q26.31; |
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Trisomy |
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- |
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Chromosome 3q |
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Abreu-González et al. 2013;3434 Abreu-González M, García-Delgado C, Cervantes A, Aparicio-Onofre A, Guevara-Yáñez R, Sánchez-Urbina R, et al. Clinical, cytogenetic, and biochemical analysis of a family with a t(3;13)(q26.2;p11.2): further delineation of 3q duplication syndrome. Case Rep Genet. 2013; 2013:895259. Faas et al. 20023535 Faas BH, De Vries BB, Van Es-Van Gaal J, Merkx G, Draaisma JM, Smeets DF. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet. 2002; 62(4):315-20.
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3q25.1-26.2 |
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|
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|
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duplication syndrome |
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46,XX,t(3;8) |
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1 |
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3q12-q23; |
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Duplication; |
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- |
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- |
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Gamerding et al. 2006;3636 Gamerdinger U, Bosse K, Eggermann T, Kalscheuer V, Schwanitz G, Engels H. First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Eur J Med Genet. 2006; 49(3):225-34.
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(q12;q11.2) |
3q12-q21 |
deletion |
|
|
Okada et al. 19873737 Okada N, Hasegawa T, Osawa M, Fukuyama Y. A case of de novo interstitial deletion 3q. J Med Genet. 1987; 24(5):305-8.
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8q11.2; |
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Duplication; |
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CHD7
|
|
Charge syndrome |
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Amouroux et al. 2012;3838 Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, et al. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet. 2012; 20(5):580-3.
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8q11.2-q13 |
deletion |
|
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Verhoeven et al. 20123939 Verhoeven WM, Egger JI, Feenstra I, de Leeuw N. A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy. Eur J Med Genet. 2012; 55(5):358-61.
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46,XY,der(5)del(5) (?p15.1 )add(?p15) |
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1 |
|
5p15.1 |
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Trisomy; duplication |
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- |
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Cri-du-Chat syndrome |
|
Balaiardo et al. 2003;4040 Baialardo EM, Torrado Mdel V, Barreiro CZ, Gallego MS. Partial distal 5p trisomy resulting from paternal translocation (5;15)(p15.1;p13) in a boy with no mental retardation. Clin Dysmorphol. 2003; 12(4):257-9. Weeb et al. 19884141 Webb GC, Voullaire LE, Rogers JG. Duplication of a small segment of 5p due to maternal recombination within a paracentric shift. Am J Med Genet. 1988; 30(4):875-81.
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46,XX,del(5) |
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3 |
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5p15.2 |
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Translocation and |
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SRD5A1,POLS
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|
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Harvard et al. 2005;1919 Harvard C, Malefant P, Koochek M, Creighton S, Mickelson EC, Holden JJ, et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet. 2005; 67(4):341-51. Wu et al. 20054242 Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005; 13(4):475-85.
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(p15.2) |
|
deletion |
5p15.3 |
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Deletion |
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- |
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Moreira et al. 2008;4343 Moreira LMA, Carvalho AFL, Borja ALVF, Pinto PSP, Silveira A, de Freitas LM, et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet. 2008; 49(4):415-20.
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Laczmanska et al. 20064444 Laczmanska I, Stembalska A, Gil J, Czemarmazowicz H, Sasiadek M. Cri du chat syndrome determined by the 5p15.3-->pter deletion-diagnostic problems. Eur J Med Genet. 2006; 49(1):87-92.
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46,XX,t(6;11) |
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1 |
|
6q25.3-qter |
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Deletion |
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TBP
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Chromosome 6q |
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Abu-Amero et al. 2010;1717 Abu-Amero KK, Hellani A, Salih MA, Al Hussain A, al Obailan M, Zidan G, et al. Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genet. 2010; 31(1):1-11.
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(q25.3;q21) |
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|
|
|
|
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deletion syndrome |
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Lukusa et al. 20014545 Lukusa T, Willekens D, Lukusa N, De Cock F, Fryns JP. Terminal 6q25.3 deletion and abnormal behaviour. Genet Couns. 2001; 12(3):213-21.
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11q14.1-q23.2; |
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Deletion; |
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FZD4
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Trichorhinophalangeal |
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Li et al. 2006;4646 Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, et al. Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement. Am J Med Genet A. 2006; 140(24):2721-9. Sanchez et al. 19854747 Sánchez LM, Labarta JD, De Negrotti TC, Migliorini AM. Complex translocation in a boy with trichorhinophalangeal syndrome. J Med Genet. 1985; 22(4):314-6.
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11q21 |
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translocation |
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|
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syndrome |
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46,XX,ins(7;?) |
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1 |
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7p14.3; |
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Deletion |
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GLI3
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Greig |
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Debeer et al. 2007;4848 Debeer P, Devriendt K, De Smet L, deRavel T, Gonzalez-Meneses A, Grzeschik KH, et al. The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. J Child Orthop. 2007; 1(2):1143-50. Duno et al. 20044949 Dunø M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet. 2004; 115(6):459-67.
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(p14;?) |
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7p14-p15; 7p14 |
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|
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|
|
cephalopolysyndactyly syndrome |
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46,XY,del(8) |
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1 |
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8p23.1; 8p22- |
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Deletion; |
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- |
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Kabuki syndrome |
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Wu et al. 2010;5050 Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation. BMC Med Genet. 2010; 11:72. Sanlaville et al. 2005;5151 Sanlaville D, Genevieve DD, Bernardin C, Amiel J, Baumann C, Blois MC, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet. 2005; 13(5):690-93. Zafra et al. 20055252 Zafra de la Rosa G, Venegas-Vega CA, Monroy N, Contreras-Bucio G, Friedrich U, Houman M, et al. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype. Am J Med Genet A. 2005; 136(3):259-64.
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(p23.1) |
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8p23.1; 8p23.1- |
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duplication |
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pter |
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46,XY,add(9)(p24) |
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1 |
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9p23-pter; |
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Deletion; |
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DMRT
|
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Chromosome 9p |
|
Barbaro et al. 2009;5353 Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, et al. Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet. 2009; 17(11):1439-47.
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9p24.2-pter; 9p24.3 |
|
duplication |
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|
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deletion syndrome |
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Yang et al. 20125454 Yang Y, Wang C, Wang F, Zhu L, Liu H, He X. Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation. Gene. 2012; 502(2):154-8.
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46,XX,der(10) |
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1 |
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10q26-qter |
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Deletion |
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- |
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- |
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Lam et al. 20065555 Lam AC, Lam ST, Lai KK, Tong TM, Chau TC. High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. Clin Biochem. 2006; 39(3):196-202.
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t(10;?15) |
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15q25.3; |
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Trisomy; deletion |
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- |
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- |
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Kim et al. 2009;5656 Kim JH, Lee WM, Ryoo NH, Ha JS, Jeon DS, Kim JR, et al. [A case of partial trisomy 15q25.3-qter]. Korean J Lab Med. 2009; 29(1):66-70.
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(q26.3;?q25) |
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15q25.2; 15q25- |
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|
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|
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Wagenstaler et al. 20075757 Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am J Hum Genet. 2007; 81(4):768-79.
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|
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qter |
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|
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46,XY,t(12;20) |
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1 |
|
12q24.31-qter |
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Translocation/ |
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- |
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- |
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Callier et al. 2007;5858 Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, et al. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip-palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24). Eur J Med Genet. 2007; 50(6):455-64.
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(q24.31;q11.2) |
|
|
microdeletion |
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|
|
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Bao et al. 20055959 Bao L, Schorry EK. A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother. Am J Med Genet A. 2005; 138(4):361-4.
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20q11.2 |
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Duplication |
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ASXL1
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- |
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Ávila et al. 20136060 Ávila M, Kirchhoff M, Marle N, Hode HD, Chouchane M, Thauvin-Robinet C, et al. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. Am J Med Genet A. 2013; 161A(7):1594-8.
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46,XY,add(15) |
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1 |
|
15q26.1-26.2; |
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Deletion |
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MEF2A,CHD2
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|
- |
|
Davidson et al. 2008;6161 Davidsson J, Collin A, Björkhem G, Soller M. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet. 2008; 9:2.
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(q26) |
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15q26.2-qter |
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Capelli et al. 20126262 Capelli LP, Krepischi AC, Gurgel-Guianetti J, Mendes MF, Rodrigues T, Varela MC, et al. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur J Med Genet. 2012; 55(2):132-4.
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46,XX,inv(17) |
|
1 |
|
17p11.2 |
|
Deletion |
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TNFRSF1
|
|
Smith-Magenis |
|
Boudreau et al. 2009;6363 Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, et al. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. Am J Med Genet A. 2009; 149A(7):1382-91.
|
(p11.2q21) |
3B,FAM27L
|
syndrome |
Partida -Pérez et al. 20126464 Partida-Pérez M, Dominguez MG, Neira VA, Figuera LS, Rivera H. De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances. J Genet. 2012; 91(2):241-4.
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17q21.31; |
|
Deletion; |
|
CRHR1,MAPT
|
|
17q21.31 |
|
Koolen et al. 2006;6565 Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006; 38(9):999-1001.
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17q21.32 |
|
duplication |
|
|
|
microdeletion |
|
Grisart et al. 2009;6666 Grisart B, Willat L, Destrée A, Fryns JP, Rack K, de Ravel T, et al. 17q21.31 microduplication patients are characterized by behavioural problems and poor social interaction. J Med Genet. 2009; 46(8):524-30.
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|
|
|
|
|
|
syndrome |
|
Partida-Pérez et al. 20126464 Partida-Pérez M, Dominguez MG, Neira VA, Figuera LS, Rivera H. De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances. J Genet. 2012; 91(2):241-4.
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46,XY,inv(18) |
|
1 |
|
18p11.1 |
|
Deletion |
|
- |
|
Chromosome 18p |
|
Portnoi et al. 2007;6767 Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol. 2007; 16(4):247-52.
|
(p11.1p11.32) |
|
deletion syndrome |
|
Wester et al. 20066868 Wester U, Bondenson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006; 140(11):1164-71.
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18p11.2; |
|
Deletion, trisomy |
|
- |
|
|
Portinoi et al. 2007;6767 Portnoï MF, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, et al. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol. 2007; 16(4):247-52.
|
18p11.32 |
|
|
|
|
|
|
Moog et al. 19946969 Moog U, Engelen JJ, de Die-Smulders CE, Albrechts JC, Loneus WH, Haagen AA, et al. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication. Clin Genet. 1994; 46(6):423-9.
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46,XX,r(22) |
|
1 |
|
22q13; 22q13.3; |
|
Deletion; |
|
SHANK3
|
|
22q13 deletion |
|
Demirhan e Tunc, 2010;7070 Dermirhan O, Tunç E. Phenotypic correlations in a patient with ring chromosome 22. Indian J Hum Genet. 2010; 16(2):97-9.
|
(p13q13) |
|
|
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22q13.31; |
|
translocation; |
|
|
|
syndrome |
|
Koç et al. 20087171 Koç A, Karaer K, Ergün MA, Yirmibeş-Karaoğuz M, Kan D, Cansu A, et al. A case with a ring chromosome 22. Turk J Pedriatr. 2008; 50(2):193-6.
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[17]/46,XX[13] |
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|
|
22q13.1-q13.2 |
|
duplication |
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