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Items: 3

1.
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
C. Conn, J. Cozzi, J. Harper, R. Winston, J. Delhanty
J Med Genet. 1999 Jan; 36(1): 45–50.
PMCID:
PMC1762940
SummaryPDF–113K
2.
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
V Vervoort, D Viljoen, R Smart, G Suthers, B DuPont, A Abbott, C Schwartz
J Med Genet. 2002 Dec; 39(12): 893–899. doi: 10.1136/jmg.39.12.893
PMCID:
PMC1757218
SummaryPDF–323K
3.
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
D. Kotzot, M. Martinez, G. Bagci, S. Basaran, A. Baumer, F. Binkert, L. Brecevic, C. Castellan, K. Chrzanowska, F. Dutly, A. Gutkowska, S. B. Karauzum, M. Krajewska-Walasek, G. Luleci, P. Miny, M. Riegel, S. Schuffenhauer, H. Seidel, A. Schinzel
J Med Genet. 2000 Apr; 37(4): 281–286. doi: 10.1136/jmg.37.4.281
PMCID:
PMC1734569
SummaryPDF–130K

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