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Items: 1 to 20 of 94

1.

Is monosomy 21 rare? Seven early miscarriages including one mosaic 45,XX,-21/44,X,-21 in a single study population.

Hardy P, Bryan J, Hardy R, Lennon PA, Hardy K.

Am J Med Genet A. 2012 Aug;158A(8):2050-2. doi: 10.1002/ajmg.a.35462. Epub 2012 Jun 29. No abstract available.

PMID:
22753013
2.

Mosaic trisomy 21/monosomy 21 in a living female infant.

Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A.

Cytogenet Genome Res. 2009;125(1):26-32. doi: 10.1159/000218745. Epub 2009 Jul 14.

PMID:
19617693
3.

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature.

Manolakos E, Peitsidis P, Eleftheriades M, Dedoulis E, Ziegler M, Orru S, Liehr T, Petersen MB.

J Obstet Gynaecol Res. 2010 Apr;36(2):435-40. doi: 10.1111/j.1447-0756.2009.01140.x.

PMID:
20492403
4.

A rare case of monosomy 18p: translocation between chromosomes 18 and 21.

Tos T, Karaman A, Aycan Z, Tükün A.

Genet Couns. 2011;22(2):227-31.

PMID:
21848017
6.

Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening.

Cheng PJ, Shaw SW, Shih JC, Soong YK.

Obstet Gynecol. 2006 Feb;107(2 Pt 2):538-41.

PMID:
16449179
7.

A live-born child with a mosaic chromosomal pattern of either monosomy 21 or trisomy 4 in different embryonal germ layers.

van der Kevie-Kersemaekers AM, Suijkerbuijk RF, Moll FC, Dijkhuizen T, van Spaendonck-Zwarts KY, Drok G, Bouman K, Sikkema-Raddatz B.

Prenat Diagn. 2010 Jan;30(1):86-8. doi: 10.1002/pd.2415. No abstract available.

PMID:
19960447
9.

Trisomy 12/monosomy X/normal female mosaicism: prenatal detection and confirmation in a liveborn.

Spiro R, Rita D, Jazmines L, Jones C, Booth CW.

Prenat Diagn. 1996 Aug;16(8):734-40.

PMID:
8878284
10.

Maternal origin of monosomy 21 derived from ICSI.

Ma S, Robinson W, Lam R, Yuen BH.

Hum Reprod. 2001 Jun;16(6):1100-3.

11.

Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.

Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC Jr, Seuánez HN, Vargas FR.

Eur J Med Genet. 2008 Nov-Dec;51(6):588-97. doi: 10.1016/j.ejmg.2008.06.008. Epub 2008 Jul 12.

PMID:
18674646
12.

Additional studies warranted to confirm monosomy 21.

Phelan MC.

Prenat Diagn. 2002 Feb;22(2):160-1. No abstract available.

PMID:
11857628
13.

"Compensatory" uniparental disomy of chromosome 21 in two cases.

Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M.

J Med Genet. 1994 Jul;31(7):534-40.

14.

Prenatal diagnosis of familial ring 21 chromosome.

Melnyk AR, Ahmed I, Taylor JC.

Prenat Diagn. 1995 Mar;15(3):269-73.

PMID:
7784385
15.

Putative monosomy 21 in two patients: clinical findings and investigation using fluorescence in situ hybridization.

Viljoen DL, Speleman F, Smart R, Van Roy N, du Toit J, Leroy J.

Clin Genet. 1992 Sep;42(3):105-9.

PMID:
1395079
16.

Four novel non-random chromosome rearrangements in B-cell chronic lymphocytic leukaemia: 6p24-25 and 12p12-13 translocations, 4q21 anomalies and monosomy 21.

Cuneo A, Roberti MG, Bigoni R, Minotto C, Bardi A, Milani R, Tieghi A, Campioni D, Cavazzini F, De Angeli C, Negrini M, Castoldi G.

Br J Haematol. 2000 Mar;108(3):559-64.

PMID:
10759714
17.
18.

Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.

Ishida A, Sawaishi Y, Goto A, Takahashi Y, Arai H, Nakajima W, Onozaki M, Takada G.

Tohoku J Exp Med. 1993 Dec;171(4):277-83.

19.
20.

Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.

Utine GE, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E.

Genet Couns. 2007;18(2):171-7.

PMID:
17710869
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