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Thursday, October 13
8:00
AM
–10:00
AM
Concurrent Invited Session II (24-29)
SESSION 29 – Changing Trends in Prenatal Diagnosis
Room 517BC, Level 5, Convention Center
Moderators:
Louanne Hudgins, Stanford Univ., USA;
Diana Bianchi, Tufts Med. Ctr., USA
This session will review recent trends in prenatal
diagnosis including significant advances in earlier
screening and diagnostic testing for genetic disorders.
The speakers will focus on the changing trends in
prenatal genetic diagnosis, including a shift from
screening and diagnosis in the second trimester to the
first trimester. In particular, the utility and limitations of
first trimester ultrasound will be reviewed. Exciting
technologies on the horizon will also be reviewed,
such as utilizing comparative genomic hybridization
(CGH) to detect submicroscopic deletions and
duplications in fetuses with multiple anomalies and
noninvasive prenatal diagnosis for aneuploidy using
cell-free fetal DNA from maternal blood.
8:00
AM
The big picture: Changing trends in
prenatal diagnosis.
M. Evans. Comprehensive
Genetics, New York, USA.
8:30
AM
It’s all detectable in a first trimester
sonogram (or not!).
R. D. Wilson. Univ. of Calgary,
Canada.
9:00
AM
Array CGH in the prenatal setting:
Indications and limitations.
J. Vermeesch. Univ. of
Leuven, Belgium.
9:30
AM
Sequencing maternal plasma DNA for
non-invasive prenatal diagnosis.
R. Chiu. Chinese
Univ. of Hong Kong, SAR China.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39
SESSION 30 – Molecular Basis II: Intellectual Disabili
Room 210, Level 2, Convention Center
Moderators:
Santhosh Girirajan, Univ. of Washington
USA; Tjitske Kleefstra, UMC St. Radboud, Netherlan
83
/10:15
A novel and common X-linked inborn er
of carnitine biosynthesis associated with autism.
B. S. Celestino-Soper, S. Violante, E. Crawford, J. G
A. L. Hall, K. Lee, C. Lo, R. Luo, T. Moss, K. N.
Mohan, R. Person, B. Sadikovic, C. A. Shaw, S. J.
Sanders, M. W. State, D. Geschwind, J. Sutcliffe, R.
A. Wanders, S. M. Leal, E. Cook, R. Goin-Kochel, F.
M. Vaz, A. L. Beaudet.
84
/10:30
Next-generation sequencing in 248
families with X-linked intellectual disability.
V. M.
Kalscheuer, H. Hu, S. A. Haas, J. Chelly, H. Van Esc
M. Raynaud, A. de Brouwer, T. Zemojtel, G. Froyen,
G. M. Frints, F. Laumonnier, M. I. Love, N. Lebrun,
Field, E. Haan, M. Corbett, G. Turner, M. Shaw, G.
Gillessen-Kaesbach, U. Müller, A. Latos-Bielen´ ska, T
Kleefstra, K. Wrogemann, R. Ullmann, T. Jentsch, J.
Gecz, A. Tzschach, H. van Bokhoven, W. Chen, H.
Ropers.
85
/10:45
Exome sequencing implicates de novo
mutations in the actin genes
ACTB
and
ACTG1
i
Baraitser-Winter syndrome.
J. B. Riviere, B. W. M.
van Bon, A. Hoischen, B. J. O’Roak, S. S.
Kholmanskikh, A. Verloes, D. Pilz, V. M. Siu, M. Ros
O. A. Abdul-Rahman, J. F. Atkin, M. J. M. Nowaczy
G. M. S. Mancini, M. E. Ross, J. Shendure, J. A.
Veltman, H. G. Brunner, W. B. Dobyns.
86
/11:00
Massive parallel sequencing of all huma
protein-coding genes identifies
PACS1
as a new
gene for a new intellectual disability syndrome.
J
H. M. Schuurs-Hoeijmakers, L. E. L. M. Vissers, M.
Holvoet, M. E. M. Swinkels, C. Gilissen, M. A.
Willemsen, P. de Vries, J. A. Veltman, B. B. A. de
Vries, H. van Bokhoven, A. P. M. de Brouwer, K.
Devriendt, H. G. Brunner.
87
/11:15
Autism- and intellectual disability-
associated variations in the transcription factor
ZBTB20 differentially alter dendritic and synaptic
structure.
A. K. Srivastava, Y. Luo, K. A. Jones, L.
Dukes-Rimsky, S. M. Sowell, D. P. Srivastava, S. La
B. R. DuPont, J. S. Collins, C. M. Wilson, C. Skinner
Gurrieri, R. E. Stevenson, E. Boyd, P. Penzes.
88
/11:30
Mutation in
ARID1B
is a frequent cause
intellectual disability.
A. Reis, J. Hoyer, A. B. Ekici,
Endele, B. Popp, C. Zweier, A. Wiesener, E. Wohlleb
A. Dufke, C. Petsch, I. Göhring, A. M. Zink, G.
Rappold, E. Schröck, D. Wieczorek, O. Riess, H.
Engels, A. Rauch.
89
/11:45
A novel dynamic mutation in
AFF3
associated with developmental delay.
F. Kooy, S.
Metsu, L. Rooms, J. Gecz, D. R. FitzPatrick.