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Cytogenetics
1253F Added value of SNP probes to a CGH
chromosomal microarray analysis in clinical
diagnostics: Experience from a comprehensive high-
resolution exon targeted aCGH plus SNP array and
pure SNP arrays.
J. Wiszniewska, S.-H. L. Kang, C. A.
Bacino, W. Bi, S. Al Masri, P. A. Ward, C. M. Eng, C.
Shaw, P. Stankiewicz, J. R. Lupski, A. L. Beaudet, S. W.
Cheung, A. Patel.
1254F Parental origin of mosaic trisomy 9 or mosaic
partial trisomy 9 using SNP microarray analysis.
S. L.
Zimmerman, T. A. Smolarek.
1255F Identification of a novel interstitial deletion of
chromosome 5 by molecular cytogenetic analysis: A
de novo del(5)(q22.3q31.2).
S. Lee, H. Chae, M. Kim, Y.
Kim, I. Y. Park, J. C. Shin, J. Lee, J. Son.
1256F Recurrence of cat-eye syndrome secondary to
parental somatic mosaicism.
M. Mathieu, G. Morin, S.
Kanafani, K. Braun, B. Demeer, L. Lichtenberger, A.
Receveur, G. Jedraszak, J. Andrieux, H. Copin.
1257F An analysis pipeline for detecting copy number
variations with a low false discovery rate in microarray
data.
D.-A. Clevert, A. Mitterecker, A. Mayr, G. Klambauer,
M. Tuefferd, A. De Bondt, W. Talloen, H. Göhlmann, S.
Hochreiter.
1258F Comparison of different reference genes used
for qPCR-based CNV quantification.
N. Fang, A. Missel,
C. Beckmann, U. Deutsch.
1259F CNVs detection from targeted sequencing of
genes associated with congenital heart defects.
Y. Lai,
A. Postma, T. Rahman, J. Laros, Y. Ariyurek, S. Sperling,
S. Klaassen, J. Goodship, P. ’t Hoen.
1260F Complex genomic aberrations can be the cause
of variable phenotypes of 22q11.2 deletion or
duplication syndrome.
D. Li, M. Buch, M. Tekin, Y. S.
Fan.
1261F A de novo balanced chromosomal translocation
disrupting a copy of the hominoid-specific
TBC1D3
gene embedded in a CNV region in a patient with
developmental pituitary defects and attention-deficit/
hyperactivity disorder.
K. Machini, B. Duriez, Y. Rakover,
P. Duquesnoy, F. Dastot-Le Moal, N. Collot, S. Amselem.
1262F Diagnosis of skeletal muscular atrophy through
use of droplet digital PCR.
J. Regan, P. Belgrader, K.
Ness, B. Hindson, S. Saxonov.
1263F Complex genetics of radial ray deficiencies:
Screening of a cohort of 50 patients.
S. Vergult, A. J. M.
Hoogeboom, E. K. Bijlsma, M. Jongmans, C. Thiel, J.
Verheij, A. Perez-Aytes, H. Van Esch, A. Küchler, D.
Barge-Schaapveld, Y. Sznajer, G. Mortier, B. Menten.
Friday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
The Exhibit Hall will close at 4:30 pm.
1264F Copy number variation determination with blo
versus saliva-sourced DNA.
D. B. Willmot, R. Elumalai
1265F Evolution of chromosome abnormality
databases from mid-70s to the present.
D. Borgaonk
1266F Automating image detection for molecular
combing: Bringing the FSHD test to routine
diagnostics laboratories.
P. Walrafen, K. Nguyen, M.
Pierret, R. Bernard, C. Thiberville, C. Chaix, E. Renard,
Attarian, Y. Ghomchi, A. Bensimon, J. Pouget, E.
Conseiller, N. Lévy.
1267F Subtelomeric rearrangements in a cohort of 5
patients with severe mental retardation and
dysmorphism diagnosed by fluorescence in situ
hybridization and chromosomal microarray analysis.
Ben Abdallah Bouhjar, H. Elghezal, N. Soyah, S. Mougo
H. Ben Khelifa, M. Gribaa, D. H'mida, A. Saad, PRF,
Tunisian Network on Mental Retardation.
1268F Human embryonic stem cells and in situ
acquisition of chromosomal imbalance: a case of
trisomy 20 in the HD90 line carrying a germline VHL
mutation.
F. Pellestor, F. Becker, C. Monzo, J. De Vos,
Sarda, G. Lefort.
1269F Spectral karyotyping for identification of
constitutional chromosomal abnormalities at a natio
reference laboratory.
B. T. Wang, A. Anguiano, S. Wan
F. Z. Boyar, L. W. Mahon, M. M. El Naggar, P. H. Kohn,
H. Haddadin, V. Sulcova, A. Sbeiti, M. Ayad, T. Sahoo,
J. White, C. M. Strom.
1270F The Developmental Genome Anatomy Project
Annotating the genome by cytogenetic and
sequencing approaches.
A. M. Lindgren, M. E.
Talkowski, C. Hanscom, C. Chiang, C. Ernst, S. Ahsan,
B. Currall, L. Yuan, S. Lachke, I. Saadi, D. J. Harris, R.
Maas, B. J. Quade, J. F. Gusella, C. C. Morton.
1271F A new case of azoospermic male with
46,XY,t(1;21)(p11;p12) karyotype.
E. O. Ote, T. Turunc,
Ozer, Z. Yilmaz, F. I. Sahin.
1272F Accurate detection of copy number variations
next-generation sequencing data by a latent variabl
model.
G. Klambauer, D. A. Clevert, A. Mayr, K.
Schwarzbauer, A. Mitterecker, S. Hochreiter.
1273F Cytogenetic study of couples with infertility a
recurrent miscarriage.
O. L. de Moraes, F. C. Vinhaes,
M. T. O. Cardoso, L. F. P. Bravin, M. Yoshino, M. S.
Cordoba, S. M. do Couto, G. Tenser.
1274F Case reports: A rare chromosomal translocati
in woman with recurrent miscarriages.
V. Stoian, D.
Mierla, V. Radoi.