195 related articles for article (PubMed ID: 36586055)
41. Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis.
Shimojima K; Ondo Y; Matsufuji M; Sano N; Tsuru H; Oyoshi T; Higa N; Tokimura H; Arita K; Yamamoto T
Eur J Med Genet; 2016 Nov; 59(11):559-563. PubMed ID: 27751966
[TBL] [Abstract][Full Text] [Related]
42. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[TBL] [Abstract][Full Text] [Related]
43. A Very Rare Partial Trisomy Syndrome:
Türkyılmaz A; Yaralı O
Balkan J Med Genet; 2020 Jun; 23(1):103-108. PubMed ID: 32953418
[TBL] [Abstract][Full Text] [Related]
44. Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.
Doco-Fenzy M; Mauran P; Lebrun JM; Bock S; Bednarek N; Struski S; Albuisson J; Ardalan A; Collot N; Schneider A; Dastot-Le Moal F; Gaillard D; Goossens M
Am J Med Genet A; 2006 Feb; 140(3):212-21. PubMed ID: 16411218
[TBL] [Abstract][Full Text] [Related]
45. Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.
Berner AL; Bağci S; Wohlleber E; Engels E; Müller A; Bartmann P; Weber RG; Reutter H
Cytogenet Genome Res; 2012; 136(4):308-13. PubMed ID: 22433391
[TBL] [Abstract][Full Text] [Related]
46. Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result.
Chen CP; Ko TM; Wang LK; Chern SR; Wu PS; Chen SW; Wu FT; Chen LF; Wang W
Taiwan J Obstet Gynecol; 2021 Jul; 60(4):775-777. PubMed ID: 34247824
[TBL] [Abstract][Full Text] [Related]
47. Partial trisomies of 8q and 15q due to maternal balanced translocations.
Ozdemir M; Yuksel Z; Karaer K; Tekin N; Kucuk H; Erzurumluoglu E; Cilingir O
Genet Couns; 2012; 23(3):375-82. PubMed ID: 23072185
[TBL] [Abstract][Full Text] [Related]
48. Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis.
Chen CP; Lee CC; Pan CW; Kir TY; Chen BF
Prenat Diagn; 1998 Dec; 18(12):1289-93. PubMed ID: 9885021
[TBL] [Abstract][Full Text] [Related]
49. Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
Genesio R; De Brasi D; Conti A; Borghese A; Di Micco P; Di Costanzo P; Paladini D; Ungaro P; Nitsch L
Am J Med Genet A; 2004 Aug; 128A(4):422-8. PubMed ID: 15264291
[TBL] [Abstract][Full Text] [Related]
50. Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.
Tos T; Alp MY; Eker HK; Cebi AH; Ikbal M
Genet Couns; 2014; 25(1):35-9. PubMed ID: 24783653
[TBL] [Abstract][Full Text] [Related]
51. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
52. Genotype/phenotype analysis in a male patient with partial trisomy 4p and monosomy 20q due to maternal reciprocal translocation (4;20): A case report.
Wu D; Zhang H; Hou Q; Wang H; Wang T; Liao S
Mol Med Rep; 2017 Nov; 16(5):6222-6227. PubMed ID: 28901405
[TBL] [Abstract][Full Text] [Related]
53. Pure de novo 17q25.3 micro duplication characterized by micro array CGH in a dysmorphic infant with growth retardation, developmental delay and distal arthrogryposis.
Lukusa T; Fryns JP
Genet Couns; 2010; 21(1):25-34. PubMed ID: 20420026
[TBL] [Abstract][Full Text] [Related]
54. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).
De Krijger RR; Mooy CM; Van Hemel JO; Sulkers EJ; Kros JM; Bartelings MM; Govaerts LC
Pediatr Dev Pathol; 1999; 2(6):577-81. PubMed ID: 10508883
[TBL] [Abstract][Full Text] [Related]
55. PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER.
Erdem HB; Sahin I; Tasdemir S; Tatar A
Genet Couns; 2016; 27(3):295-303. PubMed ID: 30204959
[TBL] [Abstract][Full Text] [Related]
56. Two cases of 9p deletion syndrome and a case of partial trisomy 8 and partial monosomy 9p.
Okten G; Sezer O; Günes S; Küçüködük S; Oğur G
Genet Couns; 2009; 20(4):341-7. PubMed ID: 20162869
[TBL] [Abstract][Full Text] [Related]
57. Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter.
Sarri C; Gyftodimou J; Avramopoulos D; Grigoriadou M; Pedersen W; Pandelia E; Pangalos C; Abazis D; Kitsos G; Vassilopoulos D; Brøndum-Nielsen K; Petersen MB
Am J Med Genet; 1997 May; 70(1):87-94. PubMed ID: 9129747
[TBL] [Abstract][Full Text] [Related]
58.
Gug C; Stoicanescu D; Mozos I; Nussbaum L; Cevei M; Stambouli D; Pavel AG; Doros G
Front Pediatr; 2020; 8():375. PubMed ID: 32733829
[TBL] [Abstract][Full Text] [Related]
59. Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
Mattina T; Palumbo O; Stallone R; Pulvirenti RM; Di Dio L; Pavone P; Carella M; Pavone L
Eur J Med Genet; 2012 Dec; 55(12):747-52. PubMed ID: 23032921
[TBL] [Abstract][Full Text] [Related]
60. A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): a case report.
Zhou YC; Zhang C; Zhai JS; Li TF; Wu QY; Li WW; Li N; Li XJ; Huang YF; Cui YX; Xia XY
Mol Med Rep; 2015 Jul; 12(1):155-8. PubMed ID: 25760145
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
