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960T Mosaicism for deletion 8p22-p21.2, duplication
8p21.2-p12, and loss of the Y chromosome in an adult
male with de novo robertsonian translocation 13;14.
D.
Copenheaver, J. Meck, S. Aradhya, P. Tanpaiboon.
961T Unexpectedly variable phenotype of a combined
chromosomal disorder of 18p monosomy and 18q
partial trisomy: Autopsy findings.
M. Doi, H. Kuniba, S.
Miura, M. Nakashima, T. Hayashi, A. Yamashita, A. Yanai,
M. Obatake, K. Mochizuki, H. Moriuchi.
962T Duplication of 10q associated with multiple
congenital anomalies, dysmorphism, cognitive
impairment and autism.
H. El-Shanti, Y. Al-Sarraj, R.
Taha, H. Khair, Z. Hamed, I. Shafeeullah, B. Saleh, J.
Alami.
963T Prenatal somatic overgrowth and postnatal
growth deceleration in Pallister Killian syndrome:
Phenotypic and mechanistic overlap with Beckwith-
Wiedemann syndrome.
K. Izumi, M. Kaur, L. Conlin, N.
Spinner, A. Wilkens, Z. Zhang, I. Krantz.
964T VCP mutations associated with varied
phenotypes in the dominant and homozygous state.
V.
Kimonis, A. Nalbandian, E. Dec, S. Donkervoort, H. Yin, G.
D. Watts, B. Martin, C. Smith, V. Caiozzo, A. Wang, T.
Mozaffar, J. Weiss.
965T 19p13.3 Pure duplication.
K. Kurosawa, A.
Ishikawa, K. Enomoto, M. Tominaga, N. Furuya, M.
Masuno.
966T Clinical characteristics of chromosome 18
deletion anomalies.
J. Lin, S. Wang, F. Lo.
967T Duplication of GPC3 in the boy with growth
retardation and developmental delay.
N. Nakashima, T.
Yamagata, M. Saito, Y. Nozaki, M. Y. Momoi.
968T Interstitial duplication of 1p13.3-p22.3: Report of
a patient and review of the literature.
I. Ohashi, T.
Sasaki, T. Kusaka, Y. Shimanouchi, M. Masuno, S. Itoh.
969T MLPA and cytogenetic microarray: Utility in
evaluation of mental retardation.
S. Phadke, V. Boggula,
R. Kumar.
970T Identification of deletions in patients with cleft
palate and/or velopharyngeal insufficiency without a
definitive diagnosis.
L. A. Ribeiro-Bicudo, R. M. C.
Sandri-Souza, N. C. Lorenco, R. M. Zechi-Ceide.
971T Analphoid supernumerary marker chromosome
characterized by high resolution array: A de novo
3q26.32-q29 duplication in a child with pigmentary
mosaicism of Ito.
C. E. Steiner, K. S. Cunha, M. Simioni,
T. A. P. Vieira, V. L. Gil-da-Silva-Lopes, M. B. Puzzi.
972T Clinical features in a 4-year-old male with trisomy
8p23.3p11.1.
D. L. Sternen, J. Conta, S. E. Wallace.
Thursday Poster Authors are reminded to remove posters from the boards at 4:00 pm.
973T A long-term survivor with double aneuploidy of
trisomy 18 and Klinefelter syndrome (48,XXY,+18): A
successful shift from neonatal intensive care to hom
care.
Y. Ushiroda, M. Doi, H. Motomura, A. Yamashita,
Yanai, H. Kuniba, H. Moriuchi.
974T Challenges in the clinical interpretation of de
novo single gene deletions detected by high resoluti
genomic microarray screening.
N. Van der Aa, G.
Vandeweyer, F. Kooy.
975T Choreoathetosis, congenital hypothyroidism an
neonatal respiratory distress syndrome caused by
14q13.3 deletion not encompassing
NKX2-1
: First
reported case.
C. P. Barnett, S. M. Kirwin, K. M. B.
Vinette, W. Waters, J. Mencel.
976T Reproductive fitness in adults with 22q11.2
deletion syndrome.
G. Costain, E. W. C. Chow, C. K.
Silversides, A. S. Bassett.
977T A 2.42 Mb interstitial deletion at 12p13.1p13.2 i
a female infant with neural tube defect and distinct
dysmorphic features.
J. Fahrner, E. Wohler, C. Dinsmo
L. Henderson, D. Batista, T. Wang.
978T Trisomy X and 7p15.2-p21.1 deletion in a patie
with cleft lip and hand-foot-genital syndrome.
A. N.
Filose, G. E. Tiller.
979T Preliminary analyses of de novo CNVs and
sequence variation in the DDD project.
M. Hurles,
Deciphering Developmental Disorders Project.
980T The patterns of deletion at chromosome
15q11q13 defined with array comparative genomic
hybridization in Korean Prader-Willi/Angelman
syndrome patients.
H. W. Kim, S. Y. Shin, E. J. Seo, M
Hong, G. H. Kim, J. Y. Lee, H. W. Yoo.
981T The smallest region of deletion on 3p25 in a
patient with 3p deletion syndrome.
I. Peltekova, A.
MacDonald, C. Armour.
982T A new case of interstitial 6p22.3 chromosome
deletion: Confirmation of the minimal critical region.
Pinson, A. Schneider, M. Tournaire, M. Girard, P. Blanch
C. Coubes, D. Genevieve, P. Sarda, G. Lefort, F. Pellest
S. Taviaux, E. Haquet, J. Puechberty.
983T Phenotypic variability in individuals with
chromosome 15q11.2 microdeletion.
J. Ranells, P.
Newkirk, T. Ferlita.
984T An 81kb deletion detected by aCGH in a patien
with Rubinstein-Taybi syndrome.
E. C. Tan, A. H. M.
E. C. P. Lim, J. S. H. Ng, M. S. Brett.
985T A Rubinstein-Taybi syndrome patient with parti
deletion of the CREB binding protein gene.
E. Wohle
A. Bytyci, L. Henderson, E. Germain-Lee, J. Hoover-Fo
D. A. S. Batista.