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2. 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]
3. [Molecular-cytogenetic identification of partial trisomy of a short arm of chromosome 8]. Zerova-Liubimova TE; Rigel M; Smul'skaia NA; Evseenkova EG; Gorovenko NG; Shintzel A Tsitol Genet; 2004; 38(4):55-61. PubMed ID: 15715166 [TBL] [Abstract][Full Text] [Related]
4. Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. Chen CP; Lin SP; Su YN; Chern SR; Su JW; Lee CC; Wang W Genet Couns; 2012; 23(4):447-55. PubMed ID: 23431743 [TBL] [Abstract][Full Text] [Related]
5. Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. Pisano T; Meloni M; Cianchetti C; Falchi M; Nucaro A; Pruna D J Child Neurol; 2008 Aug; 23(8):916-8. PubMed ID: 18474936 [TBL] [Abstract][Full Text] [Related]
6. Precocious puberty associated with partial trisomy 18q and monosomy 11q. Mutesa L; Hellin AC; Jamar M; Pierquin G; Bours V; Verloes A Genet Couns; 2007; 18(2):201-7. PubMed ID: 17710872 [TBL] [Abstract][Full Text] [Related]
7. Partial trisomy of the distal part of 10q: a report of two Egyptian cases. Aglan MS; Kamel AK; Helmy NA Genet Couns; 2008; 19(2):199-209. PubMed ID: 18618995 [TBL] [Abstract][Full Text] [Related]
8. Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat. Topcu V; Ilgin-Ruhi H; Yurur-Kutlay N; Ekici C; Vicdan A; Tukun FA Genet Couns; 2014; 25(1):1-6. PubMed ID: 24783648 [TBL] [Abstract][Full Text] [Related]
9. A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. Colombani M; Chouchane M; Pitelet G; Morales L; Callier P; Pinard JP; Lion-François L; Thauvin-Robinet C; Mugneret F; Huet F; Guibaud L; Faivre L Eur J Med Genet; 2006; 49(6):466-71. PubMed ID: 16807158 [TBL] [Abstract][Full Text] [Related]
10. Duplication of the distal part of the long arm of chromosome 1. Johnson VP Am J Med Genet; 1991 Jun; 39(3):258-69. PubMed ID: 1867275 [TBL] [Abstract][Full Text] [Related]
11. [Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report]. Le Goff L; Hadjadj E; Denis D J Fr Ophtalmol; 2002 Apr; 25(4):388-92. PubMed ID: 12011743 [TBL] [Abstract][Full Text] [Related]
12. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies. Morava E; Jackson KE; Tsien F; Marble MR Genet Couns; 2004; 15(4):449-53. PubMed ID: 15658621 [TBL] [Abstract][Full Text] [Related]
13. Genitourinary anomalies of pediatric FG syndrome. Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621 [TBL] [Abstract][Full Text] [Related]
16. A case of Joubert's syndrome with extensive cerebral malformations. ten Donkelaar HJ; Hoevenaars F; Wesseling P Clin Neuropathol; 2000; 19(2):85-93. PubMed ID: 10749289 [TBL] [Abstract][Full Text] [Related]
17. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257 [TBL] [Abstract][Full Text] [Related]
18. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Chang BS; Piao X; Bodell A; Basel-Vanagaite L; Straussberg R; Dobyns WB; Qasrawi B; Winter RM; Innes AM; Voit T; Grant PE; Barkovich AJ; Walsh CA Ann Neurol; 2003 May; 53(5):596-606. PubMed ID: 12730993 [TBL] [Abstract][Full Text] [Related]
19. Mother to son transmission of del(1) (q42.1q42.3). Sanford Hanna JA; Ball S; Pagon RA; Donlan M Am J Med Genet; 2001 Jan; 98(1):103-6. PubMed ID: 11426447 [TBL] [Abstract][Full Text] [Related]
20. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. Fagali C; Kok F; Nicola P; Kim C; Bertola D; Albano L; Koiffmann CP Eur J Med Genet; 2009; 52(5):333-6. PubMed ID: 19596467 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]