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986T Severe aortic stenosis in a child with Joubert
syndrome and related disorders: A case report and
review of congenital heart defects reported in the
human ciliopathies.
S. C. Bowdin, N. Karp, L. Grosse-
Wortmann, S. Blaser.
987T Characteristics of kidney and liver disease in 38
patients with Joubert syndrome and related disorders.
J. De Dios, T. Vilboux, K. Daryanani, I. B. Turkbey, P.
Choyke, D. Doherty, I. Glass, M. Parisi, J. Bryant, M.
Huizing, T. Heller, W. A. Gahl, M. Gunay-Aygun.
988T New syndrome?: Situs inversus totalis and
infantile spasm and generalized hypotonia with severe
global developmental delay.
B. Hashemi, K. Siriwardena,
S. Jain, M. Moharir, O. Bar-Yosef, A. Ali, D. Chitayat.
989T Confirmation of the chromosomal microarray as
a first-tier clinical diagnostic test for individuals with
DD/ID and MCA.
A. Battaglia, A. Novelli, L. Bernardini, T.
Filippi, V. Doccini, J. C. Carey.
990T 1p36.2 CNVs cause Setleis syndrome, a focal
facial dermal dysplasia.
R. J. Desnick, A. Yang, L.
Edelmann, L. Liang, I. Nazarenko, A. Ma'ayan, B. E.
Blessing, V. K. Proud, J. E. Ming, J. A. Rosenfled, C.
Cadilla, A. R. Norby, D. D. Weaver.
991T Phenotypic heterogeneity in a family segregating
two different
NRXN1
deletions.
L. B. Henderson, C. D.
Applegate, R. L. McClellan, H. T. Bjornsson, S. A. Morsey,
D. A. S. Batista, S. Naidu, A. Hamosh.
992T Clinical dilemma in interpretation of microaaray
results: Report on series of inherited copy number
gain and loss with variable expression.
J. Hiemenga, K.
Withrow, C. Forgeng, V. Kirkland, M. Jaworski, J.
Bodurtha, A. Pandya.
993T Alström syndrome in Taiwan: Familial variable
expression of metabolic abnormalities and revisit of
syndromic obesity.
J. Hou.
994T Array comparative genomic hybridization in
diagnosing Mendelian disorders: How far do we go
and when do we stop?!
A. Tsai, D. Klepacka, C. Walton.
995T Using a combination of MLPA kits to detect
microdeletion and subtelomeric rearrangement in
Iranian patients with mental retardation.
S. Zeinali, M.
S. Falah, T. Pourmostafaei, A. Bidmeshkipour, H.
Bagherian, Z. Sharifi, N. Khazaei, M. Mohammadi, F.
Fardanesh, F. Mohammadi, S. Amini, P. Foroghi, S.
Malvandi, M. Masoudifard, S. Kianfar, A. Sarhaddi.
996T Predictors of adaptive functioning in adults with
22q11.2 deletion syndrome.
A. S. Bassett, N. Butcher, A.
Ho, G. Costain, D. Young, E. W. C. Chow.
997T Unique phenotype associated with a novel partial
chromosome 5p deletion/duplication.
L. Brick, J. M.
Meck, S. Aradhya, C. Li.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
998T Case report of a newborn with ambiguous
genitalia and mosaicism for the SRY locus.
C. Bupp,
H. Hersch, J. J. Wetherbee-Landis, C. M. Rajakaruna,
M. Goodin.
999T Mosaic dup/del 6q22.1q22.2 including COL10A
in a patient with syndromic developmental delay an
symptoms of osteogenesis imperfecta.
I. Filges, B.
Roethlisberger, P. Dill, P. Weber, A. R. Huber, F. Wenzel,
Miny.
1000T Renal tubular dysgenesis in two siblings with
novel ACE mutations.
A. Alfares, N. Braverman, C.
Antignac, K. B. Brosnihan, V. Morinière, G. Gubler, R.
Vanneste, R. Gosselin, C. Bernard, M. Bitzan.
1001T Central choroidal areolar dystrophy type 2:
Genotype-phenotype correlation.
L. Gabriel, M. Avila.
1002T Novel de novo AVPR2 gene mutation causing
CNDI in Swedish patient.
S. S. Joshi, J. H. Christense
P. Brandstrom, J. Knudsen, N. Gregersen, S. Rittig.
1003T Wide phenotypic variability of Kabuki syndro
with MLL2 mutations.
K. Kosaki, R. Tanaka, R. Kosaki
K. Uchida, C. Torii, T. Ishi, T. Sato, H. Yoshihashi.
1004T Trichohepatoenteric syndrome — Phenotypic
variability and molecular characterization.
U. H.
Kotecha, R. D. Puri, S. Movva, I. C. Verma.
1005T Evaluation of three automated mutation
detection software programs for clinical diagnostic
sequencing.
J. Machado, N. Persaud, L. Han, M. Eliou,
Ray, T. Stockley.
1006T Cornelia de Lange syndrome: A five year follo
up and renal lithiasis.
M. A. Aceves-Aceves, I. M.
Salazar-Dávalos, D. García-Cruz, A. Moreno-Andrade,
G. González-Mercado, N. O. Dávalos, J. A. Cruz-Ramo
P. Dávalos.
1007T Neu-Laxova syndrome and congenital
anomalies of the spectrum of this syndrome in a hig
inbred family: Could these anomalies represent clini
manifestations in heterozygotes?
D. Cavalcanti, M. T.
Sakata, F. Poletta, J. Lopez-Camelo, C. Rosenberg, E.
Castilla.
1008T Genome-wide DNA methylation profiling of C
islands in hypospadias.
S. Choudhry, K. Beckman, L.
Qiao, H. Bengtsson, M. Segal, L. Baskin.
1009T A patient with marked hypoplasia of the thor
split-feet, polysyndactyly, renal defect and malrotati
of intestine.
K. Haraguchi, M. Doi, H. Kuniba, M. Sasa
T. Kosaka, K. Mochizuki, T. Tokunaga, M. Obatake, A.
Yamashita, A. Yanai, H. Motomura, H. Moriuchi.
1010T 16p13.11p12.3 Duplication in a girl with multi
congenital anomalies and developmental delay.
E.
Leon, S. Lewin.