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Items: 7

1.
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
2.
No evidence for a paternal interchromosomal effect from analysis of the origin of nondisjunction in Down syndrome patients with concomitant familial chromosome rearrangements.
A A Schinzel, P A Adelsberger, F Binkert, S Basaran, S E Antonarakis
Am J Hum Genet. 1992 Feb; 50(2): 288–293.
PMCID:
PMC1682467
SummaryPage BrowsePDF–804K
3.
A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome.
C M Ogilvie, F L Raymond, R H Harrison, P N Scriven, Z Docherty
J Med Genet. 1998 Mar; 35(3): 234–237. doi: 10.1136/jmg.35.3.234
PMCID:
PMC1051248
SummaryPage BrowsePDF–1.0M
4.
Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.
R H Flomen, P A Gorman, R Vatcheva, J Groet, I Barisić, I Ligutić, D Sheer, D Nizetić
J Med Genet. 1997 Mar; 34(3): 191–195. doi: 10.1136/jmg.34.3.191
PMCID:
PMC1050891
SummaryPage BrowsePDF–1.0M
5.
"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation.
R V Mikelsaar, I W Lurie, T E Ilus
J Med Genet. 1996 Apr; 33(4): 344–345. doi: 10.1136/jmg.33.4.344
PMCID:
PMC1050589
SummaryPage BrowsePDF–597K
6.
Evidence that Rieger syndrome maps to 4q25 or 4q27.
C Vaux, L Sheffield, C G Keith, L Voullaire
J Med Genet. 1992 Apr; 29(4): 256–258. doi: 10.1136/jmg.29.4.256
PMCID:
PMC1015927
SummaryPage BrowsePDF–841K
7.
Outcome of de novo balanced translocations ascertained prenatally.
D J MacGregor, S Imrie, J L Tolmie
J Med Genet. 1989 Sep; 26(9): 590–591. doi: 10.1136/jmg.26.9.590
PMCID:
PMC1015701
SummaryPage BrowsePDF–164K

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