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Items: 1 to 20 of 174

1.

Unusual phenotype in partial trisomy 14.

Lemire EG, Cardwell S.

Am J Med Genet. 1999 Dec 3;87(4):294-6.

PMID:
10588832
3.

Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up.

Littooij AS, Hochstenbach R, Sinke RJ, van Tintelen P, Giltay JC.

Am J Med Genet. 2002 Apr 22;109(2):125-32.

PMID:
11977161
4.

Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.

Bregant L, Gersak K, Veble A.

Genet Couns. 2005;16(1):59-63.

PMID:
15844780
6.

[Cytogenetic analysis of partial trisomy 9p resulting from a reciprocal balanced 9/21 translocation].

Wang XR, Luo RL, Dai XH, Liu JY.

Yi Chuan. 2007 Jul;29(7):813-6. Chinese.

PMID:
17646146
7.

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

Kondo Y, Mizuno S, Ohara K, Nakamura T, Yamada K, Yamamori S, Hayakawa C, Ishii T, Yamada Y, Wakamatsu N.

Am J Med Genet A. 2006 Feb 1;140(3):227-32.

PMID:
16411203
8.

Tertiary trisomy due to a reciprocal translocation of chromosomes 5 and 21 in a four-generation family.

Braddock SR, Henley KM, Potter KL, Nguyen HG, Huang TH.

Am J Med Genet. 2000 Jun 19;92(5):311-7.

PMID:
10861659
9.

Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).

Chen E, Choe MA, Loughman WD, Covert S, Bitts S, Rowe A, Beischel L, Johnson JP.

Am J Med Genet A. 2005 Jan 15;132A(2):164-70.

PMID:
15551340
10.

Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation.

Tsien F, Morava E, Talarski A, Marble M.

Clin Dysmorphol. 2005 Oct;14(4):177-81.

PMID:
16155418
11.

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.

Soler A, Sánchez A, Carrió A, Badenas C, Milà M, Margarit E, Borrell A.

Am J Med Genet A. 2005 Apr 30;134(3):309-14. Review.

PMID:
15732062
12.

A severely retarded 18-year-old boy with tertiary partial trisomy 14.

Smith A, den Dulk G, Elliott G.

J Med Genet. 1980 Jun;17(3):230-2.

13.

Partial trisomy 9q due to maternal 9q 17q translocation.

Nampoothiri S, Lakshman LR, Anilkumar A, Thampi MV.

Indian Pediatr. 2008 Jul;45(7):595-8.

14.

Partial trisomy and partial monosomy resulting from a reciprocal segregating in a large family.

Velagaleti GV, Hawkins JC, Panova NI, Lockhart LH.

Indian J Pediatr. 2008 Sep;75(9):956-60. doi: 10.1007/s12098-008-0093-7.

PMID:
18568304
15.
16.

Pure partial trisomy 7q: two new patients and review.

Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML.

Am J Med Genet. 2002 Nov 22;113(2):218-24. Review.

PMID:
12407716
17.

Partial trisomy 17q and monosomy 9p due to a familial translocation.

Cotter PD, Stewart NL.

Ann Genet. 1990;33(4):231-3.

PMID:
1710432
18.

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation.

Batstone PJ, Simpson S, Bonthron DT, Keng WT, Hamilton D, Forsyth L, Sales M, Pratt N, Goudie D.

Am J Med Genet A. 2003 Apr 30;118A(3):241-6.

PMID:
12673654
19.

Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations.

Velagaleti GV, Lockhart LH, Schmalstieg FC, Goldman AS.

Am J Med Genet. 2001 Aug 1;102(2):139-45.

PMID:
11477605
20.

Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features.

Orellana C, Martínez F, Badía L, Millán JM, Montero MR, Andrés J, Prieto F.

Clin Genet. 2001 Sep;60(3):206-11.

PMID:
11595022
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