2009 Vienna - European Society of Human Genetics

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Cytogenetics bridization) techniques. In 25 peripheral blood samples were applied conventional cytogenetic techniques and FISH with the use of probes specific for the subtelomeric chromosomes regions. The authors present the results, comparing them with those described in the literature. Supported by the Commission for Promotion of Research in Health Care: Research Project in Applied Health Care - Nº 5/2007 P03.170 clinical features in 102 patients with Angelman syndrome W. Tan 1 , C. A. Bacino 2 , S. A. Skinner 3 , S. A. Skinner 3 , I. Anselm 1 , R. Barbieri-Welge 4 , A. Baeur-Carlin 3 , A. L. Beaudet 2 , T. Bichell 5 , J. K. Gentile 1 , D. G. Glaze 2 , L. T. Horowitz 3 , H. Lee 6 , M. P. Nespeca 4 , S. U. Peters 2 , T. Sahoo 2,7 , D. Sarco 1 , S. E. Waisbren 1 , L. M. Bird 4 ; 1 Children’s Hospital Boston, Boston, MA, United States, 2 Baylor College of Medicine, Houston, TX, United States, 3 Greenwood Genetic Center, Greenwood, SC, United States, 4 Rady Children’s Hospital San Diego, San Diego, CA, United States, 5 Vanderbilt University, Kennedy Center, Nashville, TN, United States, 6 Data Technology Coordinating Center, University of South Florida, Tampa, FL, United States, 7 Signature Genomic Laboratories, Spokane, WA, United States. Background: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. We are conducting a 5-year longitudinal study on the natural history of AS, to improve our understanding of the complications, morbidity and neurodevelopment in AS. We present the baseline clinical data that describes characteristics of the first 102 subjects enrolled in our study. Methods: All subjects were between 5 months and 26 years old. Subjects were evaluated by detailed history, physical examination, standardized neurodevelopmental assessments, and electroencephalograms (EEG). Deletions were sized using a chromosome 15-specific comparative genomic hybridization microarray. Results: The median age of the 102 subjects was 36 months (80% were between 17 months and 60 months). 74% of subjects had deletions, 15% had either imprinting defects or uniparental disomy, and 12% had UBE3A mutations. The most common findings were mouthing behavior in 93%, short attention span in 91%, microcephaly in 81%, sleep difficulties in 79%, ataxic or broad-based gait in 78%, fascination with water in 75%, and inappropriate laughter was observed in 62% of subjects. Clinical seizures were reported in 69% of subjects, although all EEGs were abnormal. Data on the variations in these characteristics by molecular subtype will be presented. Conclusions: In children with AS, it is the neurobehavioral phenotype, rather than the dysmorphic features or seizures, that is most characteristic. The “classic” AS phenotype is more frequently observed in those with deletions or UBE3A mutations, and not as evident in those with UPD or imprinting defects. P03.171 Particular forms of Prader Willi syndrome - clinical and genetic study C. Rusu1 , C. Vulpoi1 , E. Braha1 , M. Volosciuc2 , V. Gorduza1 , C. Gorduza3 , M. Covic1 ; 1 2 3 University of Medicine, Iasi, Romania, Children’s Hospital, Iasi, Romania, ”Sf Spiridon” Hospital, Iasi, Romania. Prader-Willi syndrome (PWS) is a relatively common disorder due to abnormalities in the 15q11.2-q13 region. Major manifestations include hypotonia with poor suck and poor weight gain in infancy, early childhood-onset hyperphagia and obesity, characteristic appearance, hypogonadism, growth hormone insufficiency causing short stature, mild mental retardation and characteristic behaviour. We present 3 particular cases of PWS recorded in the files of Iasi Medical Genetics Center in order to illustrate some special features and to discuss the diagnosis and management strategy. In all 3 cases the suspicion of diagnosis was based on actualized diagnostic criteria. Case 1: 10 years old girl with typical neonatal hypotonia and poor weight gain in infancy followed by marked hyperphagia and obesity, acromicria and hypogonadism, but with tall stature, multiple severe allergies, severe mental retardation and seizures. Genetic defect: microdeletion identified by FISH; Case 2: 6 years old girl with neonatal hypotonia and feeding difficulties followed by marked obesity, but with macrocephaly, inexpressive face and severe tibia vara. Genetic defect: imprinting defect; Case 3: 20 years old boy with typical neonatal hypotonia and poor weight gain in infancy followed by mild obesity and relatively normal apetite, acromicria (but with shortening of the 4 th metacarpal) and a particular psychological profile. Genetic defect: 15q deletion identified on the karyotype. Clinical features, diagnosis and management will be illustrated in detail.In conclusion, we present 3 particular cases of PWS in order to illustrate some special features and to discuss the diagnosis and management strategy. P03.172 Oro-dental phenotypic spectrum of patients with PWs C. Bortun1 , L. Ardelean1 , M. Puiu2 ; 1 2 Faculty of Dental Medicine, Timisoara, Romania, University of Medicine and Pharmacy V. Babes, Timisoara, Romania. Background. Prader-Willi Syndrome (PWS) is a rare genetic disorder caused by genetic defects in certain regions of chromosome 15q11- 13. Commonly associated characteristics of this disorder include hypotonia, obesity, mental retardation, short stature, hypogonadotropic hypogonadism, small hands and feet, facial dysmorphy, learning and behavioural difficulties, and dental abnormalities (thick viscous saliva). Aim. To describe the oro-dental phenotypic spectrum of patients with PWS. Design. Five PWS patients (5-22 years of age) being followed at the Emergency Children Hospital L. Turcanu, Timisoara were examined at the dental clinic of the same institution. Medical information collected included all clinical manifestation, body mass index (BMI), level of cognitive functioning, genetic investigations. Oral and radiological evaluations were performed. Results. All 5 patients had caries experience, dental erosion and salivary flow rates were assessed. Conclussion. The clinical implications of the dental anomalies, with genetically controlled patterns are important in establishment of early diagnosis and appropriate orthodontic care and collaboration between dentist, geneticist and pediatrician ensure a formula of a correct diagnosis and in giving an adequate therapeutical advice. P03.173 contributions to expanding the concept genetic-epigenetic and the correlation phenotype-genotype in Prader-Willi/Angelman syndromes M. Stoian1 , V. Belengeanu1 , N. Cucu2 , M. Puiu1 ; 1University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania, 2Faculty of Biology, University of Bucharest, Bucharest, Romania. Prader-Willi and Angelman syndromes are two distinct neurodevelopmental disorders, caused by several genetic/epigenetic mechanisms involving chromosome 15. Recent studies revealed differences in different classes of PWS/AS against previous ones. This aspect supports the requirement of extending the investigation protocols for the patients in order to acquire an early diagnosis, an accurate etiological subtype that will support an adequate genetic counseling and an efficient management of the disease. We initiated a project and we propose to identify possible factors involved in etiology of altering of the imprinting process, by applying adapted surveys for the families of the patients, including many generations. Applications of genetic and epigenetic testing relevant for subtypes of PWS/AS and the introduction of chromatin remodeling tests by chromatin inmmunoprecipitation assay and possibility of TOF mass spectrometry are original and complex aspects that this study has as objectives. In the first three months from the start off of this project we investigated the first four patients (1 boy and 3 girls) that were included in the study. The phenotype of the patients allowed as according to clinical criteria to set the PWS diagnose. For all patients FISH analysis was performed using Vysis Prader-Willi/Angelman Region Probe - LSI SNRPN SpectrumOrange/CEP 15 (D15Z1) SpectrumGreen/LSI PML SpectrumOrange probe. For one of the patients the deletion was positive and for the rest the result was negative. The complex epigenetic analysis is to be performed remaining that the results to be included in the presentation.
Cytogenetics P03.174 Deletion of the cHRNA7 gene in a patient with Prader-Willi syndrome and epilepsy A. Buffet1 , V. Gaston1 , B. Delobel2 , G. Diene3 , M. Tauber3 , P. Calvas1 , E. Bieth1 ; 1 2 3 Hôpital Purpan, Toulouse, France, Hôpital Saint Vincent, Lille, France, Hôpital des Enfants, Toulouse, France. Prader-Willi syndrome (PWS) is an imprinting disorder caused by loss of expression of paternally inherited contiguous genes from the chromosomal region 15q11-q13. In 70 percent of cases the affected patients carry an interstitial deletion on the paternal chromosome 15. Two recurrent deletions are commonly reported: one between the breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3. We have recently shown that approximately 10 percent of the 15q11-q13 deletions are atypical and involve other breakpoints. PWS and epilepsy is a rare occurrence reported in less of 10 percent of PWS. Recent studies have shown that CHRNA7 gene (cholinergic receptor neuronal nicotinic alpha polypeptide 7) which maps on chromosome 15q13.3 is involved in isolated epilepsy. We report a case of a young girl affected with PWS and epilepsy. PWS was suspected because of neonatal hypotonia and craniofacial feature. The diagnostic was confirmed by methylation analysis and an unbalanced karyotype 45,XX,-15,der(10)t(10;15)(q26.3;q13) was found by cytogenetics analysis. We performed a Quantitative Multiplex PCR Short Fluorescent fragment methodology to analyse ten markers of the 15q11-q13 region including the CHRNA7 gene. We found a large atypical deletion leading to the loss of the CHRNA7 gene. Our results suggest that epilepsy in this case of PWS could be due to the haploinsufficiency of CHRNA7. At our knowledge, it is the first case of PWS and epilepsy with a demonstrated deletion of CHRNA7 gene. We propose to search for an atypical deletion in all patients with PWS and epilepsy. P03.175 Deletion analysis using Quantitative multiplex PcR of short fluorescent Fragments (QMPSF) in patients with Prader-Willi syndrome: evidence for uncommon deletion types V. Gaston 1 , A. Buffet 1 , G. Diene 2 , M. Tauber 2 , E. Bieth 1 ; 1 Hôpital Purpan, Toulouse, France, 2 Hôpital des Enfants, Toulouse, France. Prader-Willi Syndrome (PWS) is a neurogenetic disorder that results from the absence of normally active paternally expressed genes from the 15q11-q13 chromosome region. About 70% of individuals have a paternally derived interstitial deletion of 15q11-q13. Two common classes of deletion has been reported: a type I between the breakpoint 1 (BP1) to BP3 and a type II deletion between BP2 to BP3. The deletion type status is commonly characterized by FISH on cultured cells and/or by microsatellites analysis on both patient and parental DNA. Because these two approaches don’t allow the screening of the entire critical 15q11q13 region we believed that other types of deletion might be missed. We have recruited 66 PWS patients with routinely diagnosed 15q deletion and we have analyzed the critical region using a new molecular assay based on the QMPSF (Quantitative Multiplex PCR of Short fluorescent Fragments) method. This assay includes three multiplex PCR allowing amplification of 18 different gene-markers located from BP1 to telomeric to BP3 region. We found 16 PWS patients (24 %) with TI deletion, 44 (67 %) with TII deletion and 6 patients (9 %) carrying an uncommon 15q deletion. The ratio of TI/TII deletion was consistent with previous studies. In conclusion, our QMPSF assay represents a powerfull tool for rapid detection and characterization for small rearrangements in 15q11-q13 region. It is particularly attractive to distinct different deletion types and useful for genotype-phenotype correlation studies in Prader-Willi syndrome. P03.176 Evaluation of clinical findings in 17 Children with 22q11.2 deletion syndrome with/without congenital hearth defects E. Mihci 1 , A. Uslu 2 , F. Kardelen 3 , S. Berker-Karaüzüm 4 , S. Taçoy 1 ; 1 AkdenizUniversity School of Medicine Department of Pediatrics Division of Clinical Genetics, Antalya, Turkey, 2 AkdenizUniversity School of Medicine Department of Pediatrics, Antalya, Turkey, 3 AkdenizUniversity School of Medicine Department of Pediatric Cardiology, Antalya, Turkey, 4 AkdenizUniversity School of Medicine Department of Medical Biology and Genetics, Antalya, Turkey. Deletion of chromosome 22q11.2 (22q11.2 DS) is one of the most common microdeletion syndromes. It is estimated incidence of 1:4000- 5000 live births. Approximately, 22q11.2 DS accounts for 5 % all newborns with congenital heart diseases (CHD) and 75 % of patients with 22q11.2 DS have CHD.The aim of this study was to evalute clinical findings in individuals with 22q11.2 DS. We retrospectively evaluated both clinical findings and CHD in 17 children with 22q11.2 DS. 10 cases had CHD with/without conotruncal defect and 7 cases had without CHD. Major dysmorphic fndings of the cases are hypertelorism, lateral displacement of the inner canthi, short palpebral fissures, swollen eyelids, dysmorphism of the nose, low set ears, minor ear-lobe anomalies and velopharyngeal insufficiency. We found that 12 cases had velopharyngeal insufficiency, 5 cases had hypocalsemia and one case with immune deficiency (Low T-cell level). Interestingly, we found that 3 cases (3/7) without CHD had dysmorphism of nose and all of the cases without CHD (7/7) had velopharyngeal insufficiency. But however only 5 case with CHD (5/10) had velopharyngeal insufficiency.In the study, we presented that dysmorphic features of 22q11.2 DS such as velopharyngeal insufficiency and dysmorphism of nose may be important sign for diagnosis of cases with 22q11.2 DS without CHD. P03.177 DiGeorge syndrome presenting with laryngeal membrane D. Begović, S. Huljev Frković, R. Lasan Trčić, D. Markov Glavaš, D. Šarić, L. Letica; University Hospital Centre Zagreb, Zagreb, Croatia. We present a case of DiGeorge syndrome with laryngeal membrane as additional element of the syndrome. The patient is the first child of healthy parents, male, born on term, spontaneously, BW 3730 gr, BL 51 cm, HC 37 cm, Apgar 9/10. Within first minutes of life baby cryed without voice with occasional inspiratory stridor. Micrognatia, low set, small ears, hypertelorism, short palpebral fissures, blunted nose, short philtrum, high arched palate were also noticed. Endotracheal endoscopy showed omega epiglottis and laryngeal membrane occupying 50 % of laryngeal entrance. Cardiac ultrasound showed ventricular septal defect, atrial septal defect type II and right aortal arch. Fluorescence in situ hybridistaion (FISH) analysis revealed a deletion of chromosome 22q11.2. Although rarely, laryngeal membrane, especially in combination with congenital heart defects should be considered for deletion 22q11.2. P03.178 A case of Emanuel syndrome arising from 2:2 segregation of a paternal t(11;22) A. M. Mohamed, A. K. Kamel, M. O. El Rouby, M. S. Zaki, H. A. Hussein; National Research cetre, Cairo, Egypt. Emanuel syndrome is an inherited chromosomal abnormality. It is the result of 3:1 meiotic segregation of a balanced translocation, t(11;22)(q23;q11). This rearrangement is the only recurrent non Robertsonian translocation in humans. Affected offspring usually carry a supernumerary derivative 22 chromosome and thus effectively trisomic for part of chromosome 22 and part of chromosome 11. A 6 years female patient, presented with mental retardation, craniofacial abnormalities, with no cardiac abnormalities. Cytogenetic analysis and FISH using WCP11, WCP 22, LSI N25 and LSI 22q13.3 revealed that the child had both translocation chromosomes, plus an additional copy of der(22). Her father had balanced translocation t(11;22), also her brother had the same balanced translocation. Her karyotype was 47,t(11;22)(q23;q11),+der(22).This rare karyotype can arise by 2:2 segregation in 1 st meiotic division in the balanced translocation father, followed by nondisjunction at meiosis II in a balanced spermatocyte. Genetic counseling and prenatal diagnosis and awareness of high risk breast cancer is very important in the families with balanced carrier of a t(11;22). P03.179 three cases of two unrelated families with a microduplication 22q11.2: developmental skull defects and phenotype variability. F. Ahlfors 1 , L. Grozdanova 2 , R. Stoeva 3,4 , J. Fryns 4 , T. Olausson 1 , P. Andersson 1 , C. Darnfors 1 , M. Stefanova 1 ; 1 Department of Clinical Genetics, Sahlgrenska University Hospital, Gothen-
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Page 111 and 112: Cytogenetics P03.028 HLA B27 allele
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Page 119 and 120: Cytogenetics grandmother and 2 mate
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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
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Page 141: Cytogenetics P03.165 interpretation
Page 145 and 146: Cytogenetics P03.183 An atypical 7q
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Page 171 and 172: Cancer genetics P06.005 tiling reso
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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