title: Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.
abstract: Robertsonian translocations (ROBs) are whole arm rearrangements involving the acrocentric chromosomes 13-15 and 21-22 and carriers are at increased risk for aneuploidy and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted with expression of genes dependent on the parental origin of the chromosome. Correction of a trisomic or monosomic conceptus for chromosomes 14 or 15 would lead to one of the established UPD 14mat/pat or UPD 15 (Prader-Willi/Angelman) syndromes (PWS/AS). In view of this, prenatal UPD testing should be considered for balanced carriers of a ROB, fetuses with a familial or de novo balanced ROB that contains chromosome 14 or 15 or with a normal karyotype when a parent is a carrier of a balanced ROB with a 14 or 15. Individuals with congenital anomalies and an abnormal phenotype and carry a ROB involving the two imprinted chromosomes should also be UPD tested.
authors.affiliation: SEALS Genetics Laboratory, NSW Health Pathology, Prince of Wales Hospital, Randwick (Sydney), NSW 2031, Australia.
authors.forename: Moh-Ying
authors.initials: MY
authors.lastname: Yip
keywords: Imprinting; Robertsonian translocations (ROBs); isochromosome; trisomy rescue; uniparental disomy (UPD)
references.citation: Am J Hum Genet. 1992 Jun;50(6):1348-50
references.pmid: 1598916
references.citation: Prenat Diagn. 2001 Aug;21(8):676-9
references.pmid: 11536270
references.citation: Clin Genet. 2011 Feb;79(2):118-24
references.pmid: 21039433
references.citation: Prenat Diagn. 2004 Dec 15;24(12):997-1000
references.pmid: 15614836
references.citation: Mol Hum Reprod. 2006 Mar;12(3):209-15
references.pmid: 16524928
references.citation: J Med Genet. 1991 Aug;28(8):511-4
references.pmid: 1681108
references.citation: J Med Genet. 1995 Jun;32(6):493
references.pmid: 7666408
references.citation: Am J Hum Genet. 2002 Dec;71(6):1456-62
references.pmid: 12424707
references.citation: Am J Med Genet. 2000 Sep 18;94(3):249-53
references.pmid: 10995513
references.citation: Am J Med Genet. 1991 Jun 1;39(3):321-31
references.pmid: 1867285
references.citation: Am J Hum Genet. 1992 Oct;51(4):701-8
references.pmid: 1357962
references.citation: Am J Hum Genet. 1993 Jun;52(6):1145-52
references.pmid: 8503447
references.citation: Am J Hum Genet. 1991 Jun;48(6):1069-74
references.pmid: 2035528
references.citation: Am J Med Genet. 1995 May 22;57(1):14-8
references.pmid: 7645591
references.citation: Am J Med Genet. 2000 Jun 19;92(5):322-7
references.pmid: 10861661
references.citation: Am J Med Genet. 1997 Oct 3;72(1):47-50
references.pmid: 9295074
references.citation: Fetal Diagn Ther. 2003 Nov-Dec;18(6):454-8
references.pmid: 14564119
references.citation: Genet Med. 2001 May-Jun;3(3):206-11
references.pmid: 11388763
references.citation: Prenat Diagn. 2000 Jun;20(6):465-8
references.pmid: 10861710
references.citation: Am J Med Genet. 2002 Sep 1;111(4):366-75
references.pmid: 12210294
references.citation: Genet Med. 2012 Jan;14(1):10-26
references.pmid: 22237428
references.citation: Prenat Diagn. 2001 Jun;21(6):513
references.pmid: 11438960
references.citation: Prenat Diagn. 2004 Aug;24(8):647-52
references.pmid: 15305356
references.citation: Am J Med Genet. 1980;6(2):137-43
references.pmid: 7192492
references.citation: Am J Med Genet A. 2010 Dec;152A(12 ):3189-92
references.pmid: 21108407
references.citation: Am J Med Genet A. 2005 Jul 30;136(3):287-305
references.pmid: 15957160
references.citation: Am J Med Genet A. 2004 Sep 15;130A(1):88-91
references.pmid: 15368501
references.citation: Clin Genet. 1975 Oct;8(4):223-43
references.pmid: 1183067
references.citation: Am J Hum Genet. 1988 Feb;42(2):217-26
references.pmid: 2893543
references.citation: Nature. 1989 Nov 16;342(6247):281-5
references.pmid: 2812027
references.citation: Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):365-76
references.pmid: 20803659
references.citation: Am J Med Genet A. 2010 Aug;152A(8):1942-50
references.pmid: 20602488
references.citation: Am J Med Genet. 2000 Dec 18;95(5):454-60
references.pmid: 11146466
references.citation: Am J Med Genet. 1995 Nov 20;59(3):271-5
references.pmid: 8599348
references.citation: Am J Med Genet. 1994 Jun 1;51(2):147-9
references.pmid: 8092191
references.citation: Am J Hum Genet. 1993 Nov;53(5):1074-8
references.pmid: 8213833
references.citation: Ann Hum Genet. 1989 Jan;53(Pt 1):49-65
references.pmid: 2658738
references.citation: Prenat Diagn. 2006 Apr;26(4):303-7
references.pmid: 16491515
references.citation: Am J Hum Genet. 1994 Jan;54(1):21-4
references.pmid: 8279466
references.citation: Mol Cytogenet. 2010 Mar 29;3:8
references.pmid: 20350319
references.citation: Am J Med Genet. 1997 May 2;70(1):74-9
references.pmid: 9129745
references.citation: Bioessays. 2000 May;22(5):452-9
references.pmid: 10797485
references.citation: Eur Child Adolesc Psychiatry. 2004 Feb;13(1):42-50
references.pmid: 14991431
references.citation: Am J Hum Genet. 2000 Jun;66(6):1787-93
references.pmid: 10775524
references.citation: Cytogenet Cell Genet. 2000;90(3-4):303-8
references.pmid: 11124538
references.citation: Am J Hum Genet. 1993 Sep;53(3):740-51
references.pmid: 8352279
references.citation: Am J Med Genet A. 2005 Oct 1;138A(2):127-32
references.pmid: 16152632
references.citation: Am J Med Genet. 2000 Feb 14;90(4):291-3
references.pmid: 10710225
references.citation: Am J Med Genet. 1998 Apr 28;77(1):54-9
references.pmid: 9557895