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1031W Polymorphism of MTHFR A1298C, a marker in
northern Indian mothers with DS babies and its
association with biochemical risk factors and CHD.
P.
K. Mohanty, S. Kapoor, A. P. Dubey, R. Saha, S. K.
Pandey, S. K. Pollipali.
1032W New mutations in Brazilian patients with
overgrowth syndromes.
D. Moretti-Ferreira, G. H. Vieira,
C. E. F. Domingues, R. L. L. F. Lima.
1033W Clinical and molecular study of a cohort of 28
patients with suspicion of Rothmund-Thomson, Baller-
Gerold and Rapadilino syndrome referred for ReCQL4
analysis.
J. Piard, M. Holder, C. Baumann, G. Baujat, L.
Martorell, F. Boralevi, N. Philip, B. Aral, N. Gigot, P. Callier,
M. Payet, C. Ragon, L. Van Maldergem, P. Vabres, L.
Faivre, C. Thauvin-Robinet.
1034W Variable features of dominantly inherited
Cornelia deLange syndrome.
M. E. Pierpont, B. Hall, R.
Temme.
1035W LEOPARD syndrome in Finland.
M. Poyhonen, K.
Avela, J. S. Moilanen, O. Saksela, S.-L. Sallinen, M.-L.
Vaisanen, S. Kivirikko.
1036W Orofacial phenotype of van der Woude and
popliteal pterygium syndrome patients with IRF6
mutations.
M. Quentric, A. Petraud, M. Legendre, M.
Ghassibé, L. Desmyter, I. Jéru, S. Marlain, M. Gonzales, S.
Amselem, M. P. Vazquez, A. Berdal, M. Vikkula, A. Picard.
1037W Chromosome 19p13.3 deletion in a child with
Peutz-Jeghers syndrome, congenital heart defect, high
myopia, learning difficulties and dysmorphic features:
Clinical and molecular characterization of a new
contiguous gene syndrome.
S. Raskin, F. Faucz, V.
Sotomaior, A. F. Bonalumi, J. Rosenfeld, J. Souza.
Genetic Counseling and Clinical
Testing
1038W Hearing impairment data analysis in clients of
genetic counseling network of State Welfare
Organization in Iran.
S. Akbaroghli, H. Masoudi Farid, P.
Jamali, N. Sorkhkooh Azari, B. Azadeh, N. Jianabed, G.
Mohammadian, M. Taghdiri, M. Borujerdi, F. Habibi, M.
Mohammadi Sarband, J. Malbin, P. Nikui, H. Khodai, F.
Sabbagh Kermani, Z. T. Zand, J. Rezazadeh Varaghchi, H.
Yazdan, G. Fatemi, G. Karbasi, S. M. Rajabi, R. Torabi, H.
Dehghan, A. Moshtaghi, M. Kasiri, S. F. Hejazi, M.
Sohrabjaidari, N. Janmohammadi, F. Ebadi, S. H. Mussavi.
1039W DFNB49 is an important cause of non-
syndromic deafness in Czech Gypsy patients but not
in the general Czech population.
D. Brožková, J.
Laštu˚ vková, H. Šteˇ pánková, M. Kru˚ tová, M. Trková, P.
Seeman.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1040W Recurrent children with TRPS I due to germli
or low grade somatic mosaicism in healthy mothers
H. J. Luedecke, S. Gkalympoudis, M. Heitmann, M.
Krajewska-Walasek.
1041W GENECA: A French regional network for
multidisciplinary management of patients at risk of
inherited cancers.
C. M. Maugard, D. Lejri, M.
Voltzenlogel, A.-L. Wetzel, L. Gilleron, L. Haar, M.
Langeois, H. Nehme-Schuster, J. M. Limacher, J.-P.
Fricker, C. Cordier.
1042W
BRCA1/2
testing, genetic counseling referral,
risk knowledge, and use of guidelines among U.S.
primary care clinicians, 2010.
C. Bellcross, K. Kolor,
J. Khoury.
1043W Germline
PTEN
and
SDHx
mutations and
KL
epimutation and thyroid cancer incidence and
phenotypic characteristics in prospective series of
individuals with Cowden and Cowden-like syndrome
J. Ngeow, J. Mester, L. Rybicki, Y. Ni, K. Milas, C. Eng.
1044W MTHFR gene polymorphisms and their
association with isolated cleft lip palate in Mexican
children.
A. Gonzalez-del Angel, B. Estandía Ortega, J.
Velázquez Aragón, M. A. Alcántara Ortigoza, M. Reyna
Fabian, C. Sabas Cruz Fuentes, M. Diaz Morales, S.
Villagómez Martínez.
1045W Homozygosity mapping to guide clinical
molecular testing in consanguineous families: A pilo
study.
R. E. Lamont, I. Gjata, C. Beaulieu, R. Casey, R.
Ferrier, R. B. Lowry, D. R. McLeod, A. M. Innes, F. Berni
J. Parboosingh.
1046W Australian relatives' experiences of
communicating genetic information following the
unexpected death of a family member due to an
inherited cardiac condition.
J. Hodgson, L. Gallacher,
Morgan, I. Macciocca, S. Metcalfe.
1047W Haplotype frequencies linked to S hemoglobi
in patients with sickle cell anemia and sickle trait in
the Atlantic and the Pacific Colombian coast.
G.
Barreto Rodriguez, M. Lizarralde Iragorri, C. Fong Reale
1048W Development of characterized genomic DNA
reference material panels for clinical chromosomal
microarrays.
L. Kalman, H. Kearney, L. Toji, D. Berlin,
Carmack, L. Conlin, J. Gastier-Foster, N. Gerry, L.
Jennings, V. Jobanputra, C. Lee, J. Leonard, B. Levy, C
Shaw, R. Shippy, S. B. Fulmer-Smentek, S. South, N.
Spinner, J. Stavropoulos, Z. Tang, H. VanSteenhouse, D
Wolff, A. Yesupriya, S. Kulkarni.
1049W The 22q11.2 duplication syndrome: A genetic
counseling conundrum!
D. M. McDonald-McGinn, S.
Saitta, A. Kohut, A. Bailey, M. D. Ha, B. Emanuel, E. H.
Zackai.