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1267W X chromosome structural variants in patients
with intellectual impairment and developmental delay:
Summary of 2200 cases.
T.-J. Chen, Y. Wang, M. Li, M.
Phelan.
1268W A fugitive occupational hazard related to
diamond workers detected by cytogenetic alterations.
S. Chettiar, J. Dattani, D. Jhala.
1269W IsoUPD as a mechanism of fetal rescue
detected by oligo-SNP array.
N. Christacos, S.
Schonberg, Z. Dai, D. Boles, J. Kelly, M. L. Solvak, K.
Burks, T. Simanivanh, P. Mowrey.
1270W Molecular cytogenetic prenatal diagnosis of a
fetus with a mosaic supernumerary neocentromeric
derivative chromosome 13.
K. Chun, M. Hryshko, D.
Konkin, S. Bal, D. Bernier, M. Tomiuk, S. Burnett, P. Frosk,
B. N. Chodirker, A. J. Dawson.
1271W Intragenic and sub-megabase deletions
detected on whole genome screens in patients with
developmental anomalies reveal loci potentially linked
to novel disorders.
J. Compton, L. Schmidt, D. M.
Riethmaier, A. Fuller, B. Boggs, G. Richard, J. M. Meck, S.
Aradhya.
1272W Conventional and molecular cytogenetic
characterization of a complex rearrangement involving
9p in an infant with craniofacial dysmorphism and
cardiac anomalies.
D. L. Di Bartolo, M. El-Naggar, R.
Owen, T. Sahoo, F. Gilbert, V. Pulijaal, S. Mathew.
1273W Submicroscopic genomic alterations
investigated by array-CGH in Finnish and Brazilian
patients with Müllerian aplasia.
E. L. Freitas, M.
Sandbacka, H. Laivuori, M. Halttunen, P. A. Otto, K.
Aittomäki, C. Rosenberg.
1274W Cytogenetic studies in primary amenorrhea
cases.
E. Ghadirkhomi, H. Khani, S. Jafarzadeh.
1275W Duplication of chromosome 12 due to familial
balanced robertsonian translocation case report.
S. S.
H. Hammad, S. I. H. Helal, N. A. Abdelmeguid, A. K. K.
Kamel.
1276W Co-occurrence of 22q12.1-12.3 deletion
encompassing the neurofibromatosis type 2 locus in
conjunction with 16p13.11 deletion in an infant with
multiple congenital anomalies.
A. M. Jay, S. Ebrahim, D.
Stockton, V. Misra, R. Awwad, M. Hankerd, A. N.
Mohamed.
1277W MTHFR gene polymorphism in mothers having
Down syndrome babies.
A. Kaur, AD. Kaur.
1278W Cytogenetic screening for female infertility: A
Tunisian report.
O. Kilani, W. Hammami, M. Ouni, W.
Ayed, A. Fadhlaoui, M. Mefteh, F. Zhioua, S. Hentati, N.
Abidli, S. Abdelhak, A. Amouri.
Wednesday Poster Authors are reminded to remove posters from the boards at 6:30 pm.
1279W Validation studies of a disease-oriented whol
genome scanning as a diagnostic test for genetic a
structural variations.
T. Kubota, S. Sakazume, T. Naga
M. Kamiyama, K. Ichikawa, H. Sato, S. Saito.
1280W Pericentric inversion of Y chromosome in an
infertile man reported as a normal variant.
E. E. Kurt,
O. Ozer, E. O. Ote, H. B. Zeyneloglu, F. I. Sahin.
1281W Monosomy 3p25.3 and trisomy 1q42.13 in a b
with multiple congenital anomalies, profound growt
and developmental restrictions and early demise.
C.
V. Mahajan, J. Wang, B. Paes.
1282W A Down syndrome patient with a de novo
recombinant chromosome 21.
G. Luleci, Z. Cetin, S.
Yakut, E. Mihci, A. E. Manguoglu, S. Berker Karauzum,
Keser.
1283W Intrachromosomal arm duplication-deletion
rearrangements.
J. Meck, S. Warren, V. Nelson, L.
Schmidt, L. Matyakhina, S. Aradhya.
1284W Cytogenomic characterization of a dysmorph
patient with congenital multiple anomalies presentin
a normal G-banding karyotype.
V. F. A. Meloni, F. B.
Piazzon, M. F. F. Soares, S. S. Takeno, D. M. Christofoli
L. M. Kulikowski, D. Brunoni, M. I. Melaragno.
1285W Isodicentric 15q: Report of two Colombian
cases.
P. Paez, J. Acosta.
1286W Ameliorative potential of melatonin and
curcumin on fluoride and arsenic induced genotoxic
in human blood cultures.
H. H. Pant, M. V. Rao.
1287W The importance of metaphase FISH analysis
parental follow-up of microarray CNVs.
P.
Papenhausen, J. Tepperberg, R. Burnside, I. Gadi, V.
Jaswaney, J. Smith, R. Potluri, E. Keitges, H. Risheg, S.
Schwartz.
Metabolic Disorders
1288W 15 Years experience: Egyptian metabolic lab.
M. Fateen, A. Gouda, M. Mahmoud.
1289W Phenylketonuria Scientific Review Conferenc
State of the science and future research needs.
M.
Parisi, T. K. Urv, R. R. Howell, K. M. Camp, P. M. Coate
H. D. Hyatt-Knorr, L. S. Nerurkar, J. H. Ferguson, S. C.
Groft.
1290W Clinical features of L-2-hydroxyglutaric acidu
and mutations of the L2HGDH gene in 4 Arab
kindreds.
M. Ul Haque, M. Al-Sayed, E. Faqeih, M. Ja
M. Amoudi, N. Kaya, H. Abalkhail, A. Al Abdullatif, M.
Rashed, M. Al-Owain, M. A. Chishti, I. Peltekova, S. H.
Zaidi.