2009 Vienna - European Society of Human Genetics

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Cytogenetics Giemsa Gurr (2%) and were observed under optical microscope. In the test group, 12077 binucleated cells were studied and 212 of them showed alterations ( 18 micronuclei and 194 nucleoplasmic bridges). Nucleoplasmic bridges are biomarkers of genomic instability and are a result of chromosomic rearrangements involving more than one centromere (dicentric chromosomes). In the control group 12056 cells were observed and 06 micronuclei were seen. The chi-square test with Yates correction indicated that the results were extremely significant (p
Cytogenetics drome is estimated at 1 per 5000 births - 0,02%) and 13 (the incidence of Patau syndrome is estimated at 1 per 10000 births - 0,01%). Amniotic fluid karyotyping and FISH (Fluorescent In Situ Hybridization) have been offered to pregnant women with genetic risk, using the standard method and GTG banding techniques. This study presents the cytogenetic results from a total of 654 cases that have been analyzed between 2008 - 2009. We have found 18 abnormal karyotypes of witch 16 cases have been numerical abnormalities (13 homogeneous aneuploidies: trisomies - 3 cases of 47,XX+21, 5 cases of 47,XY+21; 4 cases of 47,XY+18 and monosomies - 2 cases of 45,X0; 1 pseudomosaicism - 47,XX+2 and 1 triploidy - 69 XXX), 2 structural abnormalities (one case of 45,XX with translocation 45,XX, t(13q;14q) and one case of 46, XY, der(14;21)(q10;q10) +21) and 11 normal variants (7 cases of 46, XX inv(9)(p11;q13); 2 cases of 46,XY inv (3)(p11;q11.2); one case of 46,XX inv(3)(p11; q11.2), one case of 46,XY inv (3)(p11;q11.2) inv(9)(p11;q13)). The numerical abnormalities have been further verified by FISH analysis. This report confirms the importance of karyotype and FISH in prenatal diagnosis. P03.047 Not so irrelevant pseudomosaicism of trisomy 18 previously found in amniotic fluid culture R. F. Suijkerbuijk, L. Johansson, B. Sikkema-Raddatz, T. Dijkhuizen, P. Rump; University Medical Centre, Groningen, The Netherlands. In 1993, a woman (G4, P3) underwent amniocentesis because of maternal age. Regular chromosome analysis resulted in thirteen colonies showing a normal female karyotype and a single isolated metaphase with 47,XX,+18. After extensive work-up according to international prenatal quality standards, no other colony with trisomy 18 was found in a total of 29 colonies. Therefore, the finding of a single “47,XX,+18” cell was considered to represent a pseudomosaicism and the foetus was diagnosed with a normal female karyotype. Fifteen years later and at the age of 14, the very same girl was referred to our department because of mental retardation and autistiform behaviour. After exclusion of a (pre)mutation for Fragile-X syndrome, oligo array CGH analysis was performed, using the Agilent 105 K Oxford array (custom design ID: 019015), in search for a previously undetected (sub)microscopic genomic imbalance. To our surprise, a slightly elevated ratio was found for all (2424) oligo probes on chromosome 18, suggestive for a mosaic pattern of trisomy 18. No further genomic aberrations were detected. Subsequent FISH analysis on interphase and metaphase cells of blood and other tissue samples from the patient confirmed the presence of a mosaic pattern for trisomy 18. This case demonstrates that, even after careful cytogenetic examination, a “with-near-certainty” irrelevant pseudomosaicism might turn out to be a true mosaicism with clinical consequences after all. P03.048 Azoospermia, cryptorchidism and dysmorphic features in a tunisian male with a de novo apparently balanced reciprocal translocation t(4;6)(q34;q24) T. Rebai1 , J. Keskes2 , M. Meddeb3 , N. B. Abdelmoula1 ; 1 2 3 Medical University, Sfax, Tunisia, P Medicine, Sfax, Tunisia, P Genetic Laboratory, Tunis, Tunisia. A de novo apparently balanced reciprocal translocation between the long arm of chromosome 4 and the long arm of chromosome6; t(4;6)(q34;q24) is described in a Tunisian infertile man with azoospermia associated to an elevated FSH level and cryptorchidism. The patient is phenotypically abnormal and had bilateral external ear malformations with preauricular tags, asymmetric nose and abnormal extremities with bilateral thenar hypoplasia and Simian creases, triphalangeal thumbs and large toes. No familial history of infertility, recurrent spontaneous abortions, hereditary disease or malformation is present. Furthermore no personal record of hearing loss or renal troubles is found. Reciprocal translocation is defined as the exchange of chromosomal material between the arms of two heterologous chromosomes, thus changing the order, but usually not the amount of genetic material. But, in our patient dysmorphic features are remarkable and lead to expect cryptic unbalanced karyotype with or without involvement of others chromosomes like chromosome 16. Further characterization of this translocation, by fluorescent in situ hybridization (FISH) using whole chromosome painting (WCP) probes as well as specific subtelomeric probes of the chromosome 4, chromosome 6 and others will be conducted. Auditory testing and renal ultrasound will be also considered for our patient as he shared some malformations with Townes-Brocks syndrome. P03.049 interspecies variation in recombination rate in mammals P. Borodin; Institute of Cytology and Genetics, Novosibirsk, Russian Federation. We analyzed frequency and distribution of recombination sites along meiotic chromosomes of the common shrew, mink, fox, cat and dog, using fluorescently-labeled antibodies to MLH1, a mismatch repair protein of mature recombination nodules, and compared our results with those obtained on mice and humans. The species studied differ in the total number of crossovers per cell and recombination rate. The common shrew has lowest recombination rate (0.38 cM/Mb). This is rather close to the estimates obtained by MLH1 mapping for male mice (0.44) and mink (0.48). Twice higher recombination rate is detected in men (0.83), dogs (0.76) and cats (0.72). The species with high recombination rate (man, cat and dog) have higher number of autosomal arms (FNa) than those with low recombination rate (mink, mouse and shrew). A comparison of the interference estimates coming from the distribution of MLH1 interfocus distances and RAD51/MLH1 focus ratio indicates a substantial difference between the species in the strength of interference. This factor contributes into interspecies difference in recombination rate. For example, cats have smaller FNa, smaller total length of synaptonemal complex, but weaker interference than dogs, and they exceed dogs in the average number of MLH1 foci. Selective changes of interference may serve as a mechanism of adaptive “fine adjustment” of recombination rate, additionally or alternatively to “coarse adjustment” achieved by fixation of the chromosome rearrangements that change FNa, such as pericentric inversions, tandem fusions and centromere shifts. P03.050 Association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia B. Lakshamnkumar 1,2 , P. Manikantan 1 , V. Balachandar 1 , K. Sasikala 1 ; 1 Bharathiar University, Coimbatore, India, 2 Manipal university, Manipal, India. Schizophrenia (SCZ), which affects approximately 1% of the general population, is a serious neuropsychiatric disorder that is characterized by diverse and variably expressed symptoms, which include disorganized thought pattern and severe neuropsychiatric disorder with a genetic component. The major inhibitory GABA-(gamma-aminobutyric acid) ergic system may be involved. The GABA type B receptor 1 (GABBR1) gene has been localized to 6p21.3, a region linked to SCZ. The present investigation five polymorphisms in the GABBR1 gene in a sample of DSM-IV SCZ probands and their families, 40 unrelated affected individuals matched with 40 healthy controls, using the proper questionnaire. Our research focused on the contribution of the GAB- BR1 gene variants to the risk for SCZ. This gene has been implicated in the etiology of several neurobehavioral disorders such as SCZ, juvenile myoclonic epilepsy, and dyslexia, and has been localized just distal to the HLA class I region. To our knowledge, this is the first attempt to study the variant in the GABBR1 gene in our regional SCZ. However, a weak significant difference was observed in the A-7265G polymorphism between the allelic frequency and a trend was observed between the genotype frequency of SCZ individuals and controls. P03.051 cytogenetic as a simple too for sex reversal study F. razazian, s. totian, m. rahnama, f. mortezapour, f. manoochehri, m. zamanian, f. nasiri; Iranian blood transfusion organization, Tehran, Islamic Republic of Iran. Advance in experimental endocrinology, biochemistry, genetics, and molecular biology have all contributed to our understanding of the process of human sex differentiation in the decades. Based on the recognition Advance in experimental endocrinology, biochemistry, genetics Advance in experimental endocrinology, biochemistry, genetics, and molecular biology have all, and molecular biology have all of the underlying anomaly in the process of sexual differentia-
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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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Clinical genetics and Dysmorphology
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Page 105 and 106: Cytogenetics P03. cytogenetics Recu
Page 107 and 108: Cytogenetics use of metaphase analy
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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 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
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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
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Page 157 and 158: Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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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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