2009 Vienna - European Society of Human Genetics

More documents

Recommendations

Info

Prenatal and perinatal genetics The distribution of genotype frequencies differed significantly between patients basic group and controls, with the GG genotype of Coll1A1 occurring more frequently in the controls (26,0 ± 6,26% and 62,0±4,87% respectively; χ²=17,28; p
Prenatal and perinatal genetics P05.03 Application of genome wide 250k sNP array analysis in prenatal diagnosis B. Faas, I. van de B, A. J. A. Kooper, R. Pfundt, A. P. T. Smits, N. de Leeuw; Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands. Objectives: We explore the possibilities for the application of the Affymetrix 250k SNP array platform in prenatal diagnosis. Patients/methods: 250k NspI SNP array analyses were carried out on DNA from 16 fetuses (after TOP; n=11 or IUFD; n=5) and 3 newborns, all prenatally karyotyped because of ultrasound anomalies and issued as normal (n=18) or as carrier of a de novo translocation (n=1). CNVs (gains>200kb and losses>150kb) were categorized as either benign or (possibly) clinically significant. Results: Aberrations were detected in 6 cases. Three were highly likely clinically relevant and cytogenetically not visible: a de novo 2.9 Mb loss in 17p13 (IUFD), a 5 Mb loss in 3q26.33q27.2 (TOP; de novo t(3;18)(q26.2;q21.3)) and a maternal UPD 16 (live born child with MCA). In a fourth fetus a CNV with (yet) unknown clinical significance was detected: a 340 kb gain in 17q12 (TOP; no parental analysis so far). Furthermore, in a case of IUFD with no fetal karyotyping possible and mother being carrier of a t(4;22)(q12;q11.1), a 56.5 Mb gain of 4p16.3q12 was found. In a newborn with MCA, a 22qter deletion detected postnatally was further characterized and shown to be 6.1 Mb in size. Conclusion: In 6/19 cases, genome-wide SNP array analysis enabled the detection of imbalances that otherwise would have remained undetected. Its high resolution increases the reliability for detecting imbalances, but more knowledge is essential to improve the interpretation of CNVs. Moreover, criteria need to be established for the conscientious application of prenatal genome-wide array analysis. P05.04 Prenatal diagnostic of Anomaly Dandy-Walker. I. V. Soprunova1 , N. V. Tkacheva2 ; 1Astrakhan Medico-Genetic Consulting Centre, Astrakhan, Russian Federation, 2Astrakhan Medical Academy, Astrakhan, Russian Federation. Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. Between 2000 and 2008 the Astrakhan Medico-Genetic Consulting Centre performed prenatal ultrasound diagnosis for 58220 women. It was found that 10 fetuses had the Dandy-Walker malformation. 3 women were diagnosed before 22 weeks of pregnancy and 7 - after 22. 4 fetuses were male, 6 were female. For 7 of the positive fetuses it was their mother’s first pregnancies, 2 - second and 1 - fourth pregnancy. The main characteristic used to determine a positive test was an enlargement of the cisterna magna greater than 10 millimeters, complete aplasia/hypoplasia of the cerebellar vermis. 5 (50%) of the positive cases had fetuses that had hydrocephalus. 4 (40%) had chromosomal abnormalities: trisomy 18 (2) and mosaic monosomy X (2). All of the present chromosomal abnormalities were accompanied by defects within the corresponding patient’s central nervous system (CNS) (dysgensis of the corpus callosum, hyposplastic brain hemispheres, polymicrogyria) and other organs (congenital heart defects, clubfoot and omphalocele). 3 of the cases were accompanied by porencephaly (2) and microcephaly (1), 1 of the cases had cleft lip and palate. One of the positive cases had associated CNS and non-CNS-associated malformation, other have short rib-polydactyly syndrome type 2. All of these results were verified through autopsy. Using this data to analyze the rate of Dandy-Walker syndrome, its was found to be 0,017 % or 1 in 5822 fetuses. P05.05 Prenatal diagnosis of a bladder exstrophy, a developmental pathology or a syndromic association ? F. M. Nedelea 1 , L. Turculet 1 , L. Popescu 1 , C. Preda 1 , M. Ditu 1 , G. Popescu 1 , V. Plaiasu 2 , G. Peltecu 1,3 , A. Stana 1,4 ; 1 Clinical Hospital Filantropia, Bucharest, Romania, 2 Institut for Mother and Child, Alfred Rusescu, Bucharest, Romania, 3 Carol Davila University, Bucha- rest, Romania, 4 Titu Maiorescu University, Bucharest, Romania. Bladder exstrophy is caused by incomplete closure of the inferior part of the anterior abdominal wall. It has an incidence of 1/10000-1/40000 births and is more common in males (2,3M/1F). Separation of pubic bones, low set umbilicus and abnormal genitalia are associated anomalies. We present a case of bladder exstrophy who was diagnosed prenataly. It was reffered to our Prenatal Department at 32 weeks of gestation for a suspicion of ambigous genitalia. The child was born prematur, at 36weeks. Because of presence of some dysmorphic features, like low nasal bridge and micrognatia we have thought to perform further investigations to estabilish if in this case is just an development defect or bladder exstrophy is a part of a syndrome. Those aspects are important for prognosis and management of the case and also for recurence risk. P05.06 contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (caffey disease) V. Darmency1 , C. Thauvin-Robinet1,2 , T. Rousseau2 , N. Mejean3 , S. Charra2 , F. Coron1 , C. Cassini1 , F. Huet1 , M. Le Merrer4 , V. Cormier-Daire4 , N. Laurent2 , P. Sagot2 , L. Faivre1,2 ; 1Centre de Génétique et Centre de Référence « Anomalies du Développement et Syndromes Malformatifs »,hopital d’enfants, Dijon, France, 2Centre Pluridisciplinaire de Diagnostic Prénatal, Maternité, Dijon, France, 3Radiologie Pédiatrique, Hôpital d’Enfants, Dijon, France, 4Centre de Référence Maladies Rares « Maladies osseuses constitutionnelles », Hôpital Necker-Enfants Malades, Paris, France. Infantile cortical hyperostosis (Caffey disease) is characterized by acute inflammation of soft tissues and profound alterations of the shape and structure of the underlying bones, particularly the long bones, mandible, clavicles or ribs. These manifestations generally appear during the first month of life, though time of onset varies, and a severe lethal prenatal form has been reported. The diagnosis of lethal prenatal Caffey disease is generally made post-mortem since the combination of two-dimensional ultrasound and antenatal foetal x-rays is not sufficient to make the diagnosis. Here we describe the contribution of three-dimensional helical computed tomography (3D-HCT) in the diagnosis of lethal Caffey disease in a 30 WG pregnant woman, evaluated for shortened and bowed long bones. Periosteal thickening of the diaphyses and cortical irregularities were in favour of the lethal form of infantile cortical hyperostosis. This diagnosis was confirmed by postmortem x-rays and histological examination after elective termination of pregnancy. The search for the 3040C→T COL1A1 mutation on DNA extracted from foetal blood cells was negative. This case report is the first description of 3D-HCT in lethal Caffey disease. It further emphasize the value of 3D-HCT as a complementary diagnostic tool in the prenatal diagnosis of osteochondrodysplasia. This technique provides 3D images of the abnormal findings more readily, which could aid in counselling and management of the pregnancy. P05.07 cell cycle studies of human cytotrophoblast cells in missed abortion I. Trofimova1 , S. Mylnikov1 , T. Kuznetzova2 , V. S. Baranov2 ; 1 2 St.Petersburg State University, St.Petersburg, Russian Federation, Ott’s Institute of Obstetrics & Gynecology, St.Petersburg, Russian Federation. Abnormal proliferation and differentiation of trophoblast can lead to functional insufficiency of placenta and developmental destruction of embryo. Meanwhile available data on proliferative capacity and cell cycle of cytotrophoblast (CTB) in normal and pathological pregnancies are inconsistent. Proliferative capacities of CTB of chorion villi samples (CVS) from missed and artificial abortions (groups M and A respectively) at 5-8 weeks of gestations were studied. After 24, 48, 72 hours incubation with BrdU, semi-direct preparations and AO staining the metaphases with SCD and SCE were registered. Group M included CVS with normal karyotype (N=4) and with heteroploidy (N=4). Group A included CVS with normal karyotype (N=6). In spite on conspicuous interindividual variations attributed to the differences in mitotic activity and gestation ages, obvious differences were found. The number of cells with accomplished two S-phases after
Page 1 and 2:
Volume 17 Supplement 2 May 2009 www
Page 3 and 4:
European Society of Human Genetics
Page 5 and 6:
Table of Contents spoken Presentati
Page 7 and 8:
Plenary Lectures PL2.2 massive para
Page 9 and 10:
Concurrent Symposia s01.1 Genome va
Page 11 and 12:
Concurrent Symposia Monogenic diabe
Page 13 and 14:
Concurrent Symposia invariable in t
Page 15 and 16:
Concurrent Symposia s11.2 clinical,
Page 17 and 18:
Concurrent Symposia s13.2 A novel g
Page 19 and 20:
Concurrent Sessions c01.1 mRNA-seq
Page 21 and 22:
Concurrent Sessions velopmental del
Page 23 and 24:
Concurrent Sessions development of
Page 25 and 26:
Concurrent Sessions c04.6 Duplicati
Page 27 and 28:
Concurrent Sessions genes to be rec
Page 29 and 30:
Concurrent Sessions c07.5 Prenatal
Page 31 and 32:
Concurrent Sessions with familial h
Page 33 and 34:
Concurrent Sessions University of W
Page 35 and 36:
Concurrent Sessions with this, we f
Page 37 and 38:
Concurrent Sessions had immotile ci
Page 39 and 40:
Concurrent Sessions abnormal glycos
Page 41 and 42:
Concurrent Sessions showers’ and
Page 43 and 44:
Concurrent Sessions partial gene de
Page 45 and 46:
Concurrent Sessions leads to distre
Page 47 and 48:
Genetic counseling Genetics educati
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Clinical genetics and Dysmorphology
Page 61 and 62:
Page 63 and 64:
Page 65 and 66:
Page 67 and 68:
Page 69 and 70:
Page 71 and 72:
Page 73 and 74:
Page 75 and 76:
Page 77 and 78:
Page 79 and 80:
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
Page 103 and 104:
Page 105 and 106: Cytogenetics P03. cytogenetics Recu
Page 107 and 108: Cytogenetics use of metaphase analy
Page 109 and 110: Cytogenetics 2: mother’s age < fa
Page 111 and 112: Cytogenetics P03.028 HLA B27 allele
Page 113 and 114: Cytogenetics karyotype revealed a p
Page 115 and 116: Cytogenetics drome is estimated at
Page 117 and 118: Cytogenetics P03.057 Pathological c
Page 119 and 120: Cytogenetics grandmother and 2 mate
Page 121 and 122: Cytogenetics method used to detect
Page 123 and 124: Cytogenetics P03.082 High-resolutio
Page 125 and 126: Cytogenetics All detected anomalies
Page 127 and 128: Cytogenetics somy for chromosome 2.
Page 129 and 130: Cytogenetics cially in chromosome 4
Page 131 and 132: Cytogenetics (59.390.122 to 62.021.
Page 133 and 134: Cytogenetics For further characteri
Page 135 and 136: Cytogenetics 9p duplication. This c
Page 137 and 138: Cytogenetics regions with mental /d
Page 139 and 140: Cytogenetics donation program of po
Page 141 and 142: Cytogenetics P03.165 interpretation
Page 143 and 144: Cytogenetics P03.174 Deletion of th
Page 145 and 146: Cytogenetics P03.183 An atypical 7q
Page 147 and 148: Cytogenetics spermia, 11 oligosperm
Page 149 and 150: Reproductive genetics and social fa
Page 151 and 152: Reproductive genetics mosomal chang
Page 153 and 154: Reproductive genetics two cohorts w
Page 155: Reproductive genetics the 147 SC ch
Page 159 and 160: Prenatal and perinatal genetics and
Page 161 and 162: Prenatal and perinatal genetics fro
Page 163 and 164: Prenatal and perinatal genetics dev
Page 165 and 166: Prenatal and perinatal genetics in
Page 167 and 168: Prenatal and perinatal genetics obj
Page 169 and 170: Prenatal and perinatal genetics P05
Page 171 and 172: Cancer genetics P06.005 tiling reso
Page 173 and 174: Cancer genetics tient group in whic
Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
Page 187 and 188: Cancer genetics from patients with
Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208:
Cancer genetics screening was perfo
Page 209 and 210:
Cancer genetics val (DFI) than pati
Page 211 and 212:
Cancer genetics is hTERC gene ampli
Page 213 and 214:
Cancer genetics on chromosome regio
Page 215 and 216:
Cancer genetics preferentially dupl
Page 217 and 218:
Cancer cytogenetics mutations in co
Page 219 and 220:
Cancer cytogenetics P07.08 molecula
Page 221 and 222:
Statistical genetics, includes Mapp
Page 223 and 224:
Page 225 and 226:
Page 227 and 228:
Page 229 and 230:
Page 231 and 232:
Page 233 and 234:
Page 235 and 236:
Complex traits and polygenic disord
Page 237 and 238:
Page 239 and 240:
Page 241 and 242:
Page 243 and 244:
Page 245 and 246:
Page 247 and 248:
Page 249 and 250:
Page 251 and 252:
Page 253 and 254:
Page 255 and 256:
Page 257 and 258:
Page 259 and 260:
Page 261 and 262:
Page 263 and 264:
Page 265 and 266:
Page 267 and 268:
Evolutionary and population genetic
Page 269 and 270:
Page 271 and 272:
Page 273 and 274:
Page 275 and 276:
Page 277 and 278:
Page 279 and 280:
Page 281 and 282:
Page 283 and 284:
Page 285 and 286:
Genomics, Genomic technology and Ep
Page 287 and 288:
Page 289 and 290:
Page 291 and 292:
Page 293 and 294:
Page 295 and 296:
Page 297 and 298:
Page 299 and 300:
Page 301 and 302:
Page 303 and 304:
Page 305 and 306:
Page 307 and 308:
Page 309 and 310:
Page 311 and 312:
Page 313 and 314:
Molecular basis of Mendelian disord
Page 315 and 316:
Page 317 and 318:
Page 319 and 320:
Page 321 and 322:
Page 323 and 324:
Page 325 and 326:
Page 327 and 328:
Page 329 and 330:
Page 331 and 332:
Page 333 and 334:
Page 335 and 336:
Page 337 and 338:
Page 339 and 340:
Page 341 and 342:
Page 343 and 344:
Page 345 and 346:
Page 347 and 348:
Page 349 and 350:
Page 351 and 352:
Metabolic disorders P12.167 Pattern
Page 353 and 354:
Metabolic disorders PKU. BH4 challe
Page 355 and 356:
Metabolic disorders catepe Universi
Page 357 and 358:
Metabolic disorders respectively. G
Page 359 and 360:
Metabolic disorders enzymaticaly co
Page 361 and 362:
Metabolic disorders Normal Affected
Page 363 and 364:
Therapy for genetic disorders in th
Page 365 and 366:
Therapy for genetic disorders P14.0
Page 367 and 368:
Therapy for genetic disorders of me
Page 369 and 370:
Laboratory and quality management P
Page 371 and 372:
Laboratory and quality management T
Page 373 and 374:
Molecular and biochemical basis of
Page 375 and 376:
Page 377 and 378:
Page 379 and 380:
Page 381 and 382:
Page 383 and 384:
Page 385 and 386:
Genetic analysis, linkage ans assoc
Page 387 and 388:
Page 389 and 390:
Page 391 and 392:
Page 393 and 394:
Page 395 and 396:
Page 397 and 398:
Page 399 and 400:
Page 401 and 402:
Page 403 and 404:
Author Index Allanson, J.: P02.140
Page 405 and 406:
Author Index 0 Barbacioru, C.: C01.
Page 407 and 408:
Author Index 0 Bonneau, D.: C16.2,
Page 409 and 410:
Author Index 0 Chakravarti, A.: C13
Page 411 and 412:
Author Index 0 Dan, D.: P01.39, P14
Page 413 and 414:
Author Index 0 Duskova, J.: P06.012
Page 415 and 416:
Author Index Franke, A.: P09.056 Fr
Page 417 and 418:
Author Index Grasso, R.: P02.025 Gr
Page 419 and 420:
Author Index Holder-Espinasse, M.:
Page 421 and 422:
Author Index Jurkiewicz, E.: C14.5
Page 423 and 424:
Author Index Kooper, A. J. A.: P05.
Page 425 and 426:
Author Index Li, K. J.: P11.086 Li,
Page 427 and 428:
Author Index Martinet, D.: P03.095
Page 429 and 430:
Author Index Moorman, A. F. M.: P16
Page 431 and 432:
Author Index P10.57, P10.82 Oguzkan
Page 433 and 434:
Author Index P09.054, P09.085, P09.
Page 435 and 436:
Author Index P16.01 Renieri, A.: P0
Page 437 and 438:
Author Index Santorelli, F.: P08.55
Page 439 and 440:
Author Index Sinke, R. J.: P02.020
Page 441 and 442:
Author Index Taheri, M.: P04.33, P0
Page 443 and 444:
Author Index Valentino, P.: P02.064
Page 445 and 446:
Author Index Wiemer-Kruel, A.: P14.
Page 447 and 448:
Keyword Index 1 10q22 deletions: P0
Page 449 and 450:
Keyword Index autosomal dominant re
Page 451 and 452:
Keyword Index CLA: P06.073 CLCN1 ge
Page 453 and 454:
Keyword Index DMD: P16.40, P16.41,
Page 455 and 456:
Keyword Index gene networks: S12.2
Page 457 and 458:
Keyword Index hydrocephaly: P05.11
Page 459 and 460:
Keyword Index malignant hyperthermi
Page 461 and 462:
Keyword Index NAT2: P12.118 natridi
Page 463 and 464:
Keyword Index Polymalformations: P0
Page 465 and 466:
Keyword Index Sardinia: C09.6 Sardi
Page 467 and 468:
Keyword Index TNFalpha: P08.61, P09
Page 469:
ican
show all

2009 Vienna - European Society of Human Genetics

Create successful ePaper yourself

Delete template?

Save as template?