Page 157 - ASHG 2012 Annual Meeting Program Guide

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POSTER SESSIONS
W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present
immunohistochemistry in Iranian breast cancer
patients.
M. Moradi Chaleshtori, Z. Hojati, H. Teimori, S.
H. Ramazi.
893
W Array CGH of normal karyotype plasma cell
neoplasms reveals hidden recurrent and individual
genomic copy number alternations.
G. Tang, H. Zhang,
C. Shaw, P. Hixson, W. Bi, C. Borgan, M. Coyle, D.
Freppon, D. Vo, J. O’Hare, J. Gonzalez Berjon, C. Chang,
S. Cheung, A. Patel.
894
T Interstitial duplication/triplication 20q13.2:
Clinical, cytogenetical and genetical characterization.
A. Briand-Suleau, J. Martinovic, L. Tosca, B. Tou, S.
Brisset, J. Bouligand, V. Delattre, I. Giurgea, C. Goumy,
C. Francannet, A. Guiochon-Mantel, A. Benachi, J.
Vermeesch, G. Tachdjian, P. Vago, M. Goossens, C. Métay.
895
W Array-based copy-number analysis in patients
associating obesity and developmental delay/learning
disabilities and additional features.
C. D’Angelo, I. Kohl,
C. de Castro, C. Kim, D. R. Bertola, C. Lourenço, A.-B.
Perez, C. Koiffmann.
896
T Complex genomic reorganization in
microdeletions/microduplications syndromes and
molecular mechanisms for formation.
L. Kulikowski,
F. Piazzon, E. Zanardo, R. Dutra, A. Dias, M. Oliveira,
M. Moreira, G. Novo-Filho, M. Basso, C. Negretto, A.
Zandoná, M. Melaragno, C. Kim.
897
W Gene mapping in the Finnish national collection
of balanced translocations and inversions.
T. M.
Luukkonen, M. Pöyhönen, P. Ellonen, S. Lagström, J. H.
Lee, K. O. J. Simola, K. Aittomäki, J. Ignatius, R. Salonen,
A. Palotie, J. D. Terwilliger, T. Varilo.
898
T Combined exon array CGH plus SNP genome
analyses for optimized clinical diagnostics.
A. Patel, W.
Bi, C. Shaw, S.-H. Kang, A. N. Pursley, S. Lalani, P. Hixson,
T. Gambin, A. C-H. Tsai, H.-G. Bock, M. Descartes, F.
Probst, F. Sacaglia, A. L. Beaudet, J. R. Lupski, C. Eng, S.
W. Cheung, C. Bacino, J. Wiszniewska.
899
W Facing current diagnostic challenges in
array copy number analysis.
F. B. Piazzon, R. Dutra,
E. Zanardo, A. Dias, M. Moreira, G. Novo-Filho, D.
Christofolini, V. Meloni, M. Oliveira, A. Zandoná-Teixeira,
M. Basso, C. Negretto, C. Moreira-Filho, M. Melaragno, C.
Kim, L. Kulikowski.
900
T Genetic analyses of Korean patients with
unexplained mental retardation and developmental
delay using the multiple ligation-dependent probe
amplification.
S. Shim, S. Sung, S. Park, K. Kang, M. Lee,
S. Lyu, D. Cha, M. Kim.
901
W Complex nature of apparently balanced
chromosomal rearrangements in patients with autism
spectrum disorder.
A. C. Tabet, A. Verloes, M. Pilorge, B.
Benzacken, C. Betancur.
902
T The identification of submicroscopic gains and
losses at the breakpoints of apparently balanced
rearrangements.
B. Torchia, J. A. Rosenfeld, L. G. Shaffer.
881
W A defect in the
TUSC3
gene is associated
with syndromic intellectual disability.
A. Battaglia, L.
Bernardini, S. Loddo, V. Doccini, V. Parisi, A. Novelli, T.
Filippi.
882
T An apparently balanced translocation t(5;6)
(
q35.2;p22.3) disrupting the
CDKAL1
gene in a girl with
clinical features of Silver-Russell syndrome.
A. Bonaldi,
S. A. S. Fonseca, A. C. S. Fonseca, A. M. Vianna-
Morgante.
883
W Report of the first case of robertsonian
translocation in Down-Turner mosaicism (mos 45, X /
46,
XX,
1
21,
rob (21;21)(q10;q10)) with clinical evolution.
M. F. Carvalho, E. F. Carvalho, K. M. Carvalho.
884
T Copy number variation in imprinted regions:
Narrowing critical imprinted intervals.
B. C. Ballif, N. J.
Neill, J. E. Fox, M. Descartes, F. Brewer, T. Stroud, J. B.
Ravnan, L. G. Shaffer, J. A. Rosenfeld.
885
W Detection of partial tetrasomy 12pter-12p11.22
region by array CGH and FISH in a newborn with
multiple congenital abnormality.
S. Ebrahim, D.
Stockton, A. M. Jay, M. Hankerd, D. Schloff, M. Kristofice,
A. N. Mohamed.
886
T Duplication Xq28 and deletion of
SHOX
in a family
with short stature, intellectual and developmental
disability.
E. F. Andersen, E. E. Baldwin, S. Ellingwood, R.
Smith, A. N. Lamb.
887
W Deafness and infertility syndrome: An under-
diagnosed cause of hearing loss?
U. Aypar, N.
Hoppman-Chaney, D. Babovic-Vuksanovic.
888
T Identification of 90 first-reported abnormal
chromosome karyotypes in population of Eastern
China with G-band and/or C-band banding techniques.
L. Li, S. Zheng, J. Zhang, W. Fan.
889
W Genotype-phenotype correlation in individuals
with
MEF2C
mutations and/or 5q14.3-q15 deletion
syndrome.
E. Pallesi-Pocachard, J. Andrieux, A.-M.
Bisgaard Pedersen, A. Carabalona, R. Steensbjerre Moller,
P.-H. Kaad, E. Parrini, D. Heron, B. Keren, B. Benyahia,
M. Walsh, N. Sobreira, D. Batista, V. Malan, A. Represa, T.
Wang, R. Guerrini, M. Kirchhoff, C. Cardoso, M. Holder-
Espinasse.
890
T Full-blown expression of paternally inherited
Fabry disease in a young woman due to complete
skewed X-inactivation of a der(X)t(X;Y)(p22.13;p11.2)
mat.ishYp11.3(SRY
1
).
F. Vialard, K. Benistan, C. Beldjord,
S. Heide, D. Molina-Gomes, F. Jabbour, P. De Mazancourt,
D. P. Germain.
891
W Whole-genome array-CGH screening in patients
with autosomal dominant sensorineural hearing loss
points to novel susceptibility loci.
E. L. Freitas, D. T.
Uehara, V. G. L. Dantas, A. G. Silva, A. C. Krepischi, R. C.
Mingroni-Netto, C. Rosenberg.
892
T Comparison of
HER2/neu
gene amplification
assessment by fluorescent in situ hybridization and