Page 259 - ASHG 2013 Program Guide

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POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
3255
F The first case of mos 46,XX
1
21,
der(21;21)
(
q10;q10)[16]/ 45,X [14] with clinical evolution and
parental karyotypes: 46,XY [20] and 46,XX [20].
M.
Carvalho, E. Carvalho, M. Montenegro, K. Carvalho.
3256
T Characterization of expression profile of the
CER1
gene and two regulatory elements in human
mesenchymal progenitor and neural stem cells.
X.
Hauge, J. Sloan.
3257
F Four new patients with maternal UPD20: A
phenotype of isolated growth retardation and feeding
difficulties
E. J. Bhoj, S. Mulchandani, B. Thiel, E. Zackai,
I. Krantz, N. Spinner, L. Conlin.
Cancer Genetics
3258
W Targetted amplicon sequencing of tongue
cancer genome: Indian experience.
R. Rawal, S.
Bagtharia, K. C. Kothari, S. N. Shukla, A. K. Saxena.
3259
T The relationship between breast cancer and
tetraspanin8 (
TSPAN8)
gene polymorphism.
M. Acar, T.
Yilmaz, M. Oznur, Z. Unal, E. Gunduz, M. Gunduz.
3260
F
PPM1D
mutations in circulating white blood cells
and the risk of ovarian cancer.
M. R. Akbari, P. Lepage, B.
Rosen, J. McLaughlin, H. Risch, M. Minden, S. A. Narod.
3261
W Juvenile myelomonocytic leukemia in six
months old boy with breast cancer and leukemia in his
family history.
M. Akouchekian.
3262
T Analyses of genome-wide linkage scan data
among families with aggregation of breast and
prostate cancer reveals evidence for linkage at 16q21-
23.
J. Beebe-Dimmer, E. Lange, K. Zuhlke, K. Cooney.
3263
F Diversity of inherited damaging mutations
in all breast cancer genes in three series of breast
cancer patients: young onset, triple-negative and
those unselected for family history, age at diagnosis
or hormone receptor status.
G. Bernier, J. Mandell, T.
Walsh, S. Casadei, M. Lee, E. Swisher, M. C. King.
3264
W Germline copy number variants as genetic
risk factors for familial colorectal cancer type X.
D.
D. Buchanan, M. Clendenning, C. Rosty, M. D. Walsh, S.
Parry, A. K. Win, J. L. Hopper, M. A. Jenkins, Colon Cancer
Family Registry.
3265
T
HLA-DPB1
polymorphisms and cervical
squamous cell carcinoma risk.
T. Chang, Y. Yang, Y. Lee,
T. Chen, W. Lin, S. Chang.
3266
F Replication of cervical cancer susceptibility
loci identified in genome-wide association study in a
northern Swedish population.
D. Chen, J. Hammer, D.
Lindquist, U. Gyllensten.
3267
W Gene expression profiling of a single laser
capture microdissected cell.
S. Chu, M. Gauthier, K.
Schmidt, S. Patel.
3242
T Goldenhar syndrome and oculoauriculovertebral
spectrum: Clinical and cytogenomic study.
M. E. S.
Colovati, S. Bragagnolo, R. S. Guilherme, A. G. Dantas, A.
B. Perez, M. I. Melaragno.
3243
F CGH-array characterization of an interstitial 7p
deletion in two patients exhibiting features of GCPS,
RSS and SCS syndromes.
H. Hannachi, M. Kammoun, S.
Dimassi, A. Labalme, D. Sanlaville, M. Gribaa, S. Mougou-
ZERELLI, A. Saad.
3244
T Compound heterozygous microdeletion of
chromosome 15q13.2q13.3 region in a child with
hypotonia and global developmental delay.
P. Prasun,
L. Sivaswamy, L. Scussel, M. Hankerd, M. Kristofice, S.
Ebrahim.
3245
F Deletion 12q12 - 12q13.11: Case report with
unusual neurologic manifestations.
A. M. Zarante, G.
Giraldo, J. C. Prieto.
3246
T Molecular cytogenetic techniques in
investigation of suspected microdeletion syndromes:
An experience with 330 cases.
A. Halder, M. Jain, I.
Chaudhary, V. Mohan, P. Kumar.
3247
F Array CGH in pediatrics diagnosis versus
karyotype: Experience with 189 cases.
M. Pérez
Sánchez, A. Mora., J. L. Barrionuevo., S. Roldán., A. R.
González.
3248
T Linear measurement of the 2p telomere in
m
m
may be associated with dementia status of people
with Down syndrome.
E. C. Jenkins, L. Ye, S. J. Krinsky-
McHale, W. B. Zigman, N. Schupf, W. P. Silverman.
3249
F Copy number variations in patients with
agenesis of corpus callosum.
C. P. Oliveira, C. T. N.
Medina, R. S. Heredia, R. O. A. Benício, M. T. O. Cardoso,
S. F. Oliveira, A. Pic-Taylor, J. F. Mazzeu.
3250
T Sex chromosomal mosaicism in the gonads
of patients with disorders of sex development.
S. A.
AbdelKader, A. K. Kamel, H. M. AbdelGhany, N. Desouky,
M. K. Mekkawy, A. Hennawy, M. Makhluf, I. Mazen.
3251
F Directional genomic hybridization: An improved
biomarker for radiation exposure.
F. Ray, E. Robinson,
M. Cornforth, J. Bedford, E. Goodwin, S. Bailey.
3252
T A novel approach to detecting miRNA in living
cells.
D. Weldon, A. Ko, G. Johnston, V. Koong.
3253
F Mosaic maternal UPD15 in a newborn with
complex heart defect.
D. Pickering, W. G. Sanger, R. E.
Lutz, J. Carstens, M. Wiggins, B. J. Dave.
3254
T Segments of homozygosity and uniparental
disomy identified by oligonucleotide SNP array:
Experience from a reference laboratory.
J. Wang, L.
Ross, L. Mahon, R. Owen, M. Hemmat, B. Wang, M. El
Naggar, A. Anguiano, F. Boyar, M. Haddadin, T. Sahoo.