Page 251 - 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
3120
F Mucolipidosis III gamma, tuberous sclerosis,
and polycystic kidney disease caused by a contiguous
gene deletion on chromosome 16p13.3.
J. Barea, L.
Bird.
3121
W GH deficiency and epilepsy in a patient with a
19
q13.3 duplication encompassing the
PTH2, KCNC3
and
KCNA7
genes.
M. Vincent, C. Jeandel, J. Puechberty,
C. Coubes, F. Dallavale, F. Rivier, A. Schneider, M. Girard,
N. Ruiz, M. Tournaire, I. Touitou, G. Lefort, P. Sarda, D.
Genevieve.
3122
F A large deletion confined to
COL4A5
causes
Alport syndrome and diffuse leiomyomatosis.
M.J.
N. Sá, R. Sousa, F. T. Costa, F. Carvalho, S. Alves, F.
Carvalho, J. P. Oliveira.
3123
W Genetic study of a family segregating
Waardenburg-Shah syndrome.
L. Cui, H. M. Wong, J.
Zhu, F. de Almeida M., P. H. Tam, M.-M. Garcia-Barceló.
3124
F Founder effect of spinocerebellar ataxia
type 7 in a Mexican population.
Y. Tapia-Guerrero,
O. Hernández-Hernández, M. Maldonado-Rodríguez,
C. Cerecedo-Zapata, N. Leyva, L. Velázquez-Pérez, B.
Cisneros, J. J. Magaña.
3125
W Study of
GJB2, GJB6
and
MT-RNR1
m.1555A
.
G
in Mexican hearing loss patients.
M. Arenas-Sordo,
I. Menendez, E. Hernández-Zamora, A. Simarci, D.
Gutierrez, P. Murphy, X. Leyva, F. Huesca, J. Dominguez-
Aburto, M. Tekin.
3126
F A family with an
OPA1
mutation and associated
hearing loss.
C. Williams, H. Stalker, S. Schimpf-
Linzenbold, B. Wissinger.
3127
W Cerebrocostomandibular syndrome: Clinical
features of three new cases and preliminary analysis
of exome sequencing data.
D. C. Lynch, E. Lemire, B.
Chodirker, A. M. Innes, J. S. Parboosingh, F. P. Bernier,
FORGE Canada Consortium.
3128
F Dandy Walker malformation in a boy with Ellis-van
Creveld dysplasia.
J. Davis, E. Carter, P. Brill, C. Raggio.
3129
W
NEK1
and
DYNC2H1
are both involved in short
rib polydactyly Majewski type but not in Beemer
Langer cases.
J. El Hokayem, C. Huber, A. Couve, J.
Aziza, G. Baujat, R. Bouvier, D. P. Cavalcanti, F. A. Collins,
M. P. Cordier, A. L. Delezoide, M. Gonzales, D. Johnson,
M. Le Merrer, A. Levy-Mozziconacci, P. Loget, D. Martin-
Coignard, J. Martinovic, G. R. Mortier, M. J. Perez, J.
Roume, G. Scarano, A. Munnich, V. Cormier-Daire.
3130
F Refsum disease: Genotype-phenotype
correlation of a novel
PHYH
mutation in a Brazilian
patient.
L. A. R. Gabriel, J. Chiang, R. C. C. Filho, L. G.
Freitas, M. P. Avila.
3131
W Description of sclerocornea in a patient with
van den Ende Gupta syndrome and homozygous
mutation in
SCARF2
.
M. Migliavacca, N. Sobreira, G.
Antonialli, M. Moysés, M. Melaragno, D. Valle, D. Brunoni,
A. Perez.
3109
W Microdeletions in 9q33.3-q34.1 may constitute
a contiguous gene deletion syndrome characterized
by developmental delay, microcephaly, mild
dysmorphisms, strabismus, and seizures of incomplete
penetrance.
J. A. Lee, J. K. Ehret, E. Wohlleber, S. Vogt,
A. M. Zink, E. Rossier, M. Bonin, U. Grasshoff, A. Bevot, M.
Mathieu-Dramard, G. Plessis, A. de Broca, S. Kanafani, B.
Röthlisberger, M. Holder-Espinasse, I. Simonic, L. Willatt, P.
Miny, I. Filges, J. Andrieux, H. V. Firth, A. Dufke, H. Engels.
3110
F Identification and diagnosis of Williams-Beuren
syndrome in a public genetic center in Brazil.
M. M.
Viana, M. Stofanko, P. S. Cunha, H. Goncalves-Dornelas,
M. J. B. Aguiar, S. D. J. Pena.
3111
W Implementation of molecular karyotyping
in routine diagnostics provides new insights into
the pathophysiology of Silver-Russell syndrome.
S.
Spengler, M. Begemann, N. Ortiz Brüchle, P. M. Kroisel, B.
Oehl-Jaschkowitz, G. Raabe-Meyer, C. Spaich, P. Blümel,
U. Moog, K. Zerres, T. Eggermann.
3112
F Clinical, molecular cytogenetic evaluation and
genotype-phenotype correlation of a patient with
partial Jacobsen syndrome without thrombocytopenia
caused by an 13 Mb deletion of del(11)(q24.1).
J. Moon,
J. Kim, J. Kim, M. Nam, S. Yoon.
3113
W Triplication of 7q11.23 distal to the critical
region for the Williams-Beuren syndrome.
J. G. Pappas,
R. D. Nass, E. Ward, I. K. Gadi.
3114
F A de novo 9.0 Mb deletion at chromosome
region 10q21.3-q22.3 associated with severe
psychomotor delay and mild Noonan phenotype:
A case report.
S. Baffini, G. Scarselli, L. Castiglia, M.
Vinci, S. Amata, M. Fichera, J. D. Barp, E. Gambineri, E.
Chiappini, M. L. Giovannucci Uzielli.
3115
W A first reported case of a microdeletion in
8
q22.22q23 in Colombia: Phenotypic and genotypic
correlation.
P. Paez, S. Perdomo, X. Rojas.
3116
F A microdeletion of about 831 kb in a young
woman causes a loss of more than 30 genes on the
long arm of chromosome 17 including a copy of the
BRCA1
gene: Implications for genetic counseling and
clinical management.
P. M. Kroisel, J. B. Geigl, M. Mach,
C. Pischler, E. Vallant, M. R. Speicher, K. Wagner.
3117
W A familial atypical Williams-Beuren deletion
encopassing
ELN
and part of
LIMK1
gene.
B. Demeer,
F. M. Caron, S. Chenichene, G. Morin, A. Receveur,
H. Copin, A. de Broca, O. Godefroy, D. Sanlaville, M.
Mathieu, P. Saugier-Veber.
3118
F 12q21 Deletion syndrome with intellectual
disability and facial dysmorphism.
A. Matsumoto, T.
Yamagata, Y. Nozaki, E. F. Jimbo, M. Y. Momoi.
3119
W Autism, mild facial dysmorphism, abnormal
EEG, sleep problems and language impairment in
interstitial duplication 15q11-q13 syndrome.
N. Urraca,
C. Cleary, E. Pivnick, K. McVicar, V. Brewer, R. Thibert, N.
C. Schanen, M. C. Esmer, D. Lamport, L. T. Reiter.