2009 Vienna - European Society of Human Genetics

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Cytogenetics 1 Département de Génétique, CHU le Bocage, DIJON, France, 2 Laboratoire d’Anatomopathologie, CHU le Bocage, DIJON, France, 3 Maternité, CHU le Bocage, DIJON, France. The importance of array-based comparative genomic hybridization (aCGH) for detecting unbalanced genomic aberrations including microdeletions, duplications and subtelomeric rearrangements have been largely demonstrated in postnatal series. We analyzed a series of 25 fetuses using aCGH (IntegraChip) with at least three malformations and normal karyotype. Fetal DNA was extracted from frozen sample and analyzed with 1-Mb BAC-arrays, including 4898 clones with a resolution of 600 kilobases. A genomic disorder was found in 2/25 fetus (8%), both confirmed by FISH analysis. The first case was a fetus with a de novo 15q26qter deletion (7.2Mb) associated with a phenotype compatible with Fryns syndrome: congenital diaphragmatic hernia (CDH), dysmorphic features, cardiac abnormality (aortic stenosis and hypoplasia left cavities) and hypoplastic distal phalanges. The deletion overlaps the critical region of CDH in 15q26.1q26.2. The second fetus presented de novo 13q32.2qter deletion (14Mb) associated with growth retardation, craniofacial dysmorphism, foot anomalies (clubfeet) and hypoplastic kidneys. This study demonstrates the utility of the array-CGH technology in detecting chromosomal abnormality in fetuses, allowing genetic counselling for the family. Observation 1 can also be of interest since it could be a clue in the search for the genes responsible for Fryns syndrome. The detection rate in our series is comparable with the two studies of fetuses with malformations analysed with BACs-array 300 and 3500 clones (8% and 7.3 % after exclusion of inherited anomalies) [Le Caignec et al., 2005; Schaeffer et al., 2004]. P03.087 Detection of known microdeletion syndromes on array-cGH: when the boundaries of clinical diagnoses are reached. S. Bouquillon 1 , J. Andrieux 2 , C. Vincent-Delorme 1 , O. Boute-Bénéjean 1 , S. Joriot 3 , J. Cuisset 3 , S. Auvin 4 , G. Plessis 5 , B. Delobel 6 , S. Manouvrier-Hanu 1 , M. Holder-Espinasse 1 ; 1 Génétique Clinique, hôpital Jeanne de Flandre, Lille, France, 2 Laboratoire de Génétique Médicale, hôpital Jeanne de Flandre, Lille, France, 3 Neurologie pédiatrique, hôpital Roger Salengro, Lille, France, 4 Neurologie pédiatrique, hôpital Robert Debré, Paris, France, 5 Département de Génétique, CHU hôpital Clémenceau, Caen, France, 6 Centre de génétique chromosomique, hôpital Saint Vincent de Paul, Lille, France. The majority of recognizable syndromes had already been well described in their typical clinical presentations before classical recurring microdeletions were identified. The limited resolution of the conventional cytogenetics still fails to detect submicroscopic chromosomal imbalances. Therefore, suggestive phenotypes lead to targeted Fluorescence Hybridization In Situ (FISH) that is the most appropriate approach to confirm the diagnosis. Conversely, an apparently “chromosomal” but not specific developmental disorder with normal conventional karyotype can benefit from a new comprehensive high-resolution approach: Array-Comparative Genomic Hybridization (Array-CGH). It can however be very disappointing for the clinician when a known microdeletion syndrome is diagnosed by this latter technique. In our experience, array-CGH identified ~15% chromosomal imbalances in about one thousand individuals presenting unexplained developmental disorders. Nine of them (0.9%) presented a known microdeletion syndrome not diagnosed on clinical findings. Three were terminal deletions (two 1pter and one 22qter) and 6 were typical interstitial deletions (3 Di-George, 1 Smith-Magenis, 1 Angelman and 1 Williams-Beuren syndromes). We present some representative examples and propose hypotheses to explain the misdiagnoses: - The phenotype can be atypical in particular for syndromes with important clinical variability such as 22q11.2 deletion - The analysis of the dysmorphic features may be difficult when the patient is adult - Some recently identified syndromes such as 22qter deletion may be “missed” by some clinicians - The phenotype can be suggestive but associated with rare or none previously reported features. P03.088 Whole-genome array-cGH screening in undiagnosed syndromic patients: old syndromes revisited. A. Mosca 1 , P. Callier 1 , L. Faivre 2 , N. Marle 1 , C. Thauvin-Robinet 2 , A. Masurel- Paulet 2 , M. Beri 3 , E. Pipiras 4 , A. Delahaye 4 , E. Questiaux 5 , B. Benzacken 4 , P. Jonveaux 3 , F. Mugneret 1 ; 1 Laboratoire de Cytogénétique, Dijon, France, 2 Centre de Génétique, Dijon, France, 3 Laboratoire de Cytogénétique, Nancy, France, 4 Laboratoire de Cytogénétique, Hôpital Jean-Verdier, Paris, France, 5 Centre de Génétique, Hôpital Robert Ballanger, Aulnay sous bois, France. Most microdeletional syndromes were presumed to be well defined clinical entities. However, the introduction of whole-genome screening led not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for well-known syndromes. Here we report on 3 patients presenting with mental retardation and normal standard karyotype. Patient 1 was a 37 year-old male with profound mental retardation, severe psychiatric disturbances within the autism spectrum, non-specific dysmorphic features and bilateral retinal detachment. 105K array-CGH Agilent permitted to diagnose a 1.6 Mb 17p11.2 microdeletion including the RAI1 gene, smaller than the common microdeletion usually found in Smith-Magenis syndrome. Patient 2 was a 31-year-old female with mild mental retardation, severe anxiety, non-specific dysmorphic features and short stature with micromelia (142 cm) and X-rays compatible with hypochondroplasia. 105K array-CGH Agilent revealed a 1.4 Mb 7q11.23 microdeletion, similar to the deletion found in Williams syndrome. Patient 3 was a 6-year-old boy with mild mental retardation, non-specific facial dysmorphism and autistic features. BAC-array (Integragen, 1Mb) also revealed a 7q11.23 microdeletion including the ELN gene. Reevaluation in the 3 patients confirmed that the diagnosis was not possible on clinical grounds and emphasize that well-known genomic disorders can be phenotypically heterogeneous and more variable than originally thought. The large use of array-CGH might lead that such patients may be more readily achieved on the basis of genotype rather than phenotype. P03.089 44K array-cGH in 1000 patients presenting mental retardation/ multiple congenital malformations. J. R. Andrieux1 , M. Holder-Espinasse2 , O. Boute-Benejean2 , A. Dieux-Coeslier2 , M. Mathieu3 , G. Morin3 , B. Demeer3 , H. Copin3 , L. Vallée4 , B. Delobel5 , B. Duban-Bedu5 , G. Plessis6 , M. Kottler6 , C. Vincent-Delorme2 , S. Manouvrier- Hanu2 ; 1 2 Laboratoire de Génétique Médicale, CHRU, Lille, France, Service de Génétique clinique, CHRU, Lille, France, 3Service de Génétique, CHU, Amiens, France, 4Service de Neuropédiatrie, CHRU, Lille, France, 5Centre de Génétique Chromosomique, GHICL, Lille, France, 6Service de Cytogénétique et de Génétique moléculaire, CHU, Caen, France. Since 2008, 11 array-CGH platforms have been enforced in France in order to detect constitutional cryptic genomic imbalances as a routine diagnosis. To date, 1000 DNAs from patients presenting with MR/MCA have been studied using Agilent 44K array-CGH in our centre: 914 post-natal cases and 86 prenatal cases (63 after termination of pregnancy and 13 during pregnancy). Considering post-natal cases, 160 (17.5%) genomic imbalances have been detected: 128 (14%) were considered deleterious (i.e. de novo or transmitted from a parent showing the same phenotype), 13 (1.4%) were found in a healthy parent but for the remaining 19 (2.1%) no parental samples were available. For the prenatal cases, 15 (17.4%) genomic imbalances were detected: 12 (14%) were considered deleterious and 3 (3.5%) were identified in a healthy parent. Among the 140 deleterious genomic imbalances: - 11 (7.9%) corresponded to known microdeletion syndrome not diagnosed on clinical findings: 3 were telomeric (two 1pter and one 22qter) and 6 were typical interstitial (three del 22q11.2 (DiGeorge), one del 17p11.2 (SMS), one del 15q11.2 (Angelman syndrome), one 7q11.23 (Williams-Beuren)). Two were Xq28 duplications involving MECP2. - 4 (2.9%) were imbalanced telomeric anomalies (partial monosomy associated with partial trisomy). - 23 patients presented new microdeletion syndromes. Three del 17q21 (MAPT), 3 del 15q13.3 (CHRNA7), 6 del 1q21/3 dup 1q21 (microcephaly/macrocephaly), and 4 del 16p11.2/7 dup 16p11.2. - 5 patients presented single gene deletions. 0
Cytogenetics All detected anomalies are available on the BACH database (https:// www.genopole-lille.fr/bach/menu.php) with login/password on demand. P03.090 creating a First-Generation chromosome 18 Gene Dosage map C. D. Sebold, E. C. Carter, P. L. Heard, D. E. Hale, J. D. Cody; Chromosome 18 Clinical Research Center, San Antonio, TX, United States. Background. Microarray technology has revolutionized the field of clinical genetics. For individuals with chromosome abnormalities, the promise of microarray technology is that it can quickly identify which genes are and are not present in two copies. In order for this information to be useful to clinicians, there must be some tool to link genotypic data with annotated phenotypic information. As an initial step towards this goal, we have created a first generation gene dosage map for chromosome 18. Methods. Data from OMIM, the Database of Genomic Variants, and medical and scientific manuscripts were reviewed for each of the genes shown on the UCSC Genome Browser using the March 2006 assembly. 253 genes were classified as haplosufficient, haploinsufficient, conditional haplosufficient, or haplolethal. This information, along with our data on critical regions for 18q- phenotypic features, was used to create a custom track on the UCSC genome browser. Results and Discussion. Eighty-one genes were determined to be haplosufficient; 4 were haploinsufficient, and 1 was conditional haploinsufficient. The effects of the non-haploid state in the remaining genes were unknown. Critical regions for aural atresia, renal abnormalities, growth hormone deficiency, and dysmyelination were also included on the custom track. This map allows clinicians to align the molecular karyotype information from an individual patient with the annotated genomic content so as to provide a clinical prognosis. Thus, we have taken the first step towards creating a genomic map that may be used in counseling and directing care of individuals with chromosome 18 abnormalities. P03.091 copy number mutations on chromosome 17q24.2-q24.3 linked to congenital generalized hypertrichosis terminalis with or without gingival hyperplasia M. Sun 1 , N. Li 2 , W. Dong 3 , Z. Chen 4 , J. Yu 5 , L. He 6 , X. Zhang 1,2 ; 1 Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China, 2 China Medical University, Shenyang, China, 3 The Liaoning Province People’s Hospital, Shenyang, China, 4 UCLA School of Medicine, Los Angeles, CA, United States, 5 Beijing Institute of Genomics, CAS, Beijing, China, 6 Institutes of Biomedical Sciences, Fudan University, Shanghai, China. Congenital generalized hypertrichosis terminalis (CGHT) is characterized by excessive universal growth of pigmented terminal hairs. In the present study, we describe three Han Chinese families with CGHT and a sporadic case with extreme CGHT and gingival hyperplasia. We performed linkage analysis in a large four-generation family and identified a CGHT locus at chromosome 17q24.2-q24.3. We then carried out copy number analysis with the Affymatrix Genome-Wide Human SNP Array 6.0 and found nonrecurrent microdeletions in three CGHT families and a larger microduplication in the sporadic case with extreme CGHT and gingival hyperplasia. We validated all the copy number variations (CNVs) by real-time quantitative PCR, and showed that the microdeletions segregated with the disease phenotype in the three families and the microduplication in the sporadic case was de novo in origin. These CNVs shared a common overlapping genomic region encompassing the mitogen-activated protein kinase kinase 6 gene, MAP2K6. CNV at the MAP2K6 locus is not reported in the public database and was not detected in normal Han Chinese population. Taken together, our results strongly suggested that the CNVs on 17q24.2q24.3 were pathogenic copy number mutations responsible for CGHT with or without gingival hyperplasia. This report identifies CGHT as a genomic disorder and might suggest an important functional role of the MAP2K6 gene in hair growth control. P03.092 De Novo interstitial deletion 7p15.1p21 Encompassing the tWist1 Gene in a Boy with craniosynostosis, marked Lacuna skull and Facial Dysmorphism but Without Limb and spine Defects C. LI; Mcmaster University Medical Center, Hamilton, ON, Canada. A baby boy, delivered at 41weeks +3/7 days gestation to a healthy 29 year-old G1P0 after an essentially unremarkable pregnancy, was noted to have strikingly abnormal skull shape, abnormal fontanels and cranial sutures as well as facial dysmorphism that included abnormal anterior hairline, supraorbital creases below and above the eyebrows, shallow orbits, a deep transverse crease over the nose bridge and an upturned nose with under developed nares. The ears were simple with prominent superior and inferior crus of antihelix and the stem of antihelix. The mouth was held open with tented upper lip. The palate was extremely narrow but without clefting. Microretrognathia was evident. He also had an extremely anteriorly placed anus. The genitalia were otherwise normal. The rest of the clinical examination, including the extremities, was normal. Head CT and MRI revealed craniosynostosis of the coronal, lamdoid and metopic sutures and partial fusion of the sagittal suture, a fenestrated lacuna skull with ventriculomegaly and a hypoplastic corpus callosum. Skeletal survey showed no spine and limb anomalies. He had an abnormal male karyotype 46,XY,del(7)(p15.1p21) but parental karyotype was normal. The deleted region encompasses TWIST1 gene among several known and presumably many unknown genes. TWIST1 is known to be involved in Saethre-Chotzen syndrome, a condition characterized by craniosynostosis, facial asymmetry, abnormal ears and digital anomalies, and less commonly with parietal foramina, radioulnar synostosis, cleft palate and congenital heart malformation. This case exhibited many features of SCS but without spine and limb anomalies, although several novel features were also noted. P03.093 New case of interstitial 1q44 microdeletion and confirmation of a critical region for corpus callosum abnormalities. C. Rooryck Thambo1,2 , D. Cailley2 , M. Delrue2 , D. Lacombe1,1 , B. Arveiler1,2 ; 1 2 Laboratoire de Génétique Humaine, Bordeaux, France, Service de Génétique Médicale CHU Pellegrin, Bordeaux, France. We identified by array-CGH (oligonucleotides 105K, Agilent Technologies) an interstitial 1q44 deletion, spanning about 2.1 Mb, in a patient with mental retardation, dysmorphic features and brain abnormalities. This deletion arose de novo. The proposita was the only child of healthy non-consanguineous parents. She was born at term: birthweight was 3060 g (M), length 49 cm (M), and OFC 35 cm (M). Family history is non-contributory. At 30 months, height was 82 cm (-2.5 SD), weight was 11 kg (-1 SD) and OFC was 47 cm (-1 SD). Clinical features included brachycephaly, facial dysmorphism with deep set eyes, synophris, horizontal eyebrows, prognathism, clinodactyly of fifth fingers, flat feet. She walked unaided at 24 months and had no speech. She had clonic seizures. Brain MRI showed hypoplasia of the anterior part of corpus callosum, and veinous angioma in the right frontal lobe. Electroencephalogram showed central epileptic spikes predominating on the left side. This patient shows common clinical features to the individuals with 1q44 deletions. This deletion involves 10 genes and comprises the critical region for corpus callosum abnormalities described by van Bon BWM et al., J Med Genet 2008, 45:346-354. P03.094 A case of partial trisomy/monosomy of chromosome 8p associated with autism and epilepsy defined by genome arraycGH A. Nucaro 1 , R. Rossino 2 , F. Boscarelli 3 , S. Zorco 3 , N. Santini 3 , C. Montaldo 3 , I. Chillotti 4 , D. Pruna 4 , T. Pisano 4 , C. Cianchetti 4 ; 1 Istituto di Neurogenetica e Neurofarmacologia, Monserrato( Cagliari), Italy, 2 Dipartimento di Scienze pediatriche e Medicina Clinica- University, Cagliari, Italy, 3 Dipartimento di Scienze Chirurgiche e Odontostomatologiche, University, Cagliari, Italy, 4 Clinica di Neuropsichiatria Infantile, Azienda Ospedaliero- Universitaria, Cagliari, Italy. Autism is a neurodevelopmental disorder with early childhood onset and a prevalence of as much as 5/10,000. Symptoms that may contribute throughout life include qualitative impairments in reciprocal com-
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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 73 and 74: Clinical genetics and Dysmorphology
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Page 171 and 172: Cancer genetics P06.005 tiling reso
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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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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