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Items: 1 to 20 of 83

1.

Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.

Puvabanditsin S, Khan I, Garrow E, Botti C, Lambert G, Quan M.

Am J Med Genet A. 2013 Dec;161A(12):3201-4. doi: 10.1002/ajmg.a.36150. Epub 2013 Aug 16. No abstract available.

PMID:
24038903
2.

Partial trisomy 3p24.3 and partial monosomy 5p15.33: case report and a literature review.

Puvabanditsin S, Memon N, Lambert G, Cross G, El-Khawam R, Botti C, Balbin J.

Genet Couns. 2013;24(1):13-20. Review.

PMID:
23610861
3.

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.

Vasudevan PC, Parker MJ.

Clin Dysmorphol. 2006 Apr;15(2):85-7.

PMID:
16531734
4.

Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.

Van Der Burgt CJ, Merkx GF, Janssen AH, Mulder JC, Suijkerbuijk RF, Smeets DF.

J Med Genet. 1992 Oct;29(10):739-41.

5.

Partial trisomy 8q and partial monosomy 18p: a case report.

Puvabanditsin S, Garrow E, Rabi FA, Titapiwatanakun R, Kuniyoshi KM.

Ann Genet. 2004 Oct-Dec;47(4):399-403.

PMID:
15581839
6.

Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review.

Frints SG, Schrander-Stumpel CT, Engelen JJ, Da Costa AJ, Fryns JP.

Genet Couns. 1996;7(2):135-42. Review.

PMID:
8831133
7.

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.

Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I.

Am J Med Genet A. 2009 Aug;149A(8):1782-5. doi: 10.1002/ajmg.a.32972. Review.

PMID:
19610110
8.

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.

9.

Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.

Semerci CN, Cinbis M, Ullmann R, Steininger A, Bahce M, Yagci B, Ozden S, Sabir N, Gumus D, Tepeli E, Arteaga J, Mutchinick OM.

Am J Med Genet A. 2010 Jul;152A(7):1724-9. doi: 10.1002/ajmg.a.33383.

PMID:
20578131
10.
11.

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
12.

Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.

Doray B, Favre R, Gasser B, Girard-Lemaire F, Schluth C, Flori E.

Genet Couns. 2003;14(2):165-72. Review.

PMID:
12872810
13.

Prenatal diagnosis of a micropenis in a male fetus with partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->ter-->qter).

Chen CP, Lin CC, Chang TY, Li YC, Hsieh LJ, Lee CC, Chen LF, Wang W.

Prenat Diagn. 2006 Aug;26(8):757-9. No abstract available.

PMID:
16865745
14.

Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Lai MM, Scriven PN, Ball C, Berry AC.

J Med Genet. 1992 Aug;29(8):586-8.

15.

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Say B, Guzoglu N, Uras N, Candemir Z, Akin I, Dilmen U.

Genet Couns. 2013;24(4):387-91.

PMID:
24551981
16.

Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome.

Stevens SJ, Smeets EE, van den Broek N, Droog RP, Breukels MA, Albrechts JC, Rauh-van Delst M, Traa E, Lennarts M, Janssen JW, Engelen JJ.

Am J Med Genet A. 2010 Aug;152A(8):2123-6. doi: 10.1002/ajmg.a.33522. No abstract available.

PMID:
20635365
17.

Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY).

Imataka G, Tsuboi T, Kuribayashi R, Miyamoto K, Ichikawa G, Suzumura H, Arisaka O.

Genet Couns. 2013;24(4):445-8. No abstract available.

PMID:
24551991
18.

Simultaneous trisomy 9q3 and monosomy 5p in two children with der(5),t(5;9)(p15.1;q34.13): report of an extended family.

Wellesley D, Young ID, Cooke P, Callen DF, Hockey A.

J Med Genet. 1988 Oct;25(10):707-10. Review.

19.

Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.

Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F.

Genet Couns. 2013;24(2):179-84.

PMID:
24032288

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