2008 Barcelona - European Society of Human Genetics

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Cytogenetics P02.091 Identification of a rare cytogenetic aberration of chromosome 5 identified by fluorescent in situ hybridization L. Losonczi, M. Dobos, J. Szabó, J. Szabolcs, T. Bense, G. Fekete; 2nd Department of Pediatrics, Budapest, Hungary. Introduction: We report a rare cytogenetic aberration of chromosome 5 . Case report: Our patient, after delivered from second, with polyhydramnion complicated pregnancy, had bradycardia and cyanosis . His gestational age was 39 weeks, and the birthweight was 2910 grams . After delivery he had to be ventilated for some minutes . He got antibiotics because of perinatal infection . During feeding he became cyanotic . Echocardiography revealed 10 mm wide second type atrial septal defect . Neurological investigations revealed generalized hypotonia . Other characteristic finding was the baby’s strange crying. Some minor anomalities could be detected, such as low and back sitting ears, short palpebral fissure, abnormal shape of the cranium, and clubbed fingers. In the family-history was no abnormality. Because of minor abnormalities and congenital heart defect cytogenetic investigations was done . The cytogenetic investigation with G bands and FISH revealed the duplication of the cri du chat region [46,XY,dup(5)(p15 .2 p15 .3)] . Parents’ karyogram was normal . This type of cytogenetic abormality of chromosome 5 is rare, 9 cases have been reported until now, with similar clinical and cytogenetic findings. The feeding of the infant was difficult, suffered often from infections, had failure to thrive. Because of the wide ASD the cardiac function became worse, severe pulmonary hypertonia developed . He died at the age of 6 months, with symptoms of circulatory insufficienty.Conclusion: A rare cytogenetic aberration of chromosome 5 is described, which help to understand the genotypephenotype correlation in patients with 5p duplication . P02.092 A submicroscopic 5q11.2 deletion in a girl with autism, mild mental retardation and mild facial dysmorphism H. Peeters 1 , A. Crepel 1 , K. Devriendt 1 , P. De Cock 2 , J. Vermeesch 1 , J. P. Fryns 1 ; 1 University of Leuven, Center for Human Genetics, B-3000 Leuven, Belgium, 2 University of Leuven, Child Neurology Department, B-3000 Leuven, Belgium. We report on a female patient with autism spectrum disorder (ASD), mild mental retardation, mild facial dysmorphism and a submicroscopic 5q11 .2 deletion detected by 1-Mb array CGH . In addition, a 2Mb maternally inherited duplication on Xp22 .31 (RP11-483M24->RP11- 323F16) was detected . Chromosomal imbalances (deletions or duplications) appear to be present in about 25% of patients with syndromic ASD . The deletion in the present patient is approximately 8 Mb in size and is flanked by the clones CTD-2276024 and RP11-210O14. Interestingly, a similar but possibly slightly smaller deletion on has previously been described in a boy with profound speech delay, obsessional play and echolalia (K Prescott et al. 2005) . In contrast to the patient we describe, this boy presented additional malformations like a cardiac defect (tetralogy of Fallot), a bifid uvula, velopharyngeal insufficiency and short stature . Since autistic behaviour is the only consistent finding in 2 patients with a similar deletion 5q11.2, the location of this deletion may identify a gene that is implicated in autism spectrum disorders . Furthermore our observation illustrates that array-CGH should be considered as an essential aspect in the genetic analysis of patients with syndromic ASD . P02.093 Non acrocentrics ssmc: thirteen new cases M. Santos, A. Escalona, C. Hernando, C. Fuster; Universitat Autonoma de Barcelona, Bellaterra, Spain. Context Small supernumerary marker chromosomes (sSMC) are common findings in Prenatal and Postnatal Diagnosis. So far, the genetic origin of these sSMC usually remained unknown . Recently the use of several technologies based on FISH has allowed an important progress toward this goal . Objective To characterise 50 sSMC detected in unrelated patients with constitutional genetic disorders, mental retardation or infertility . Methodology G-banding, HR-CGH and FISH (M-FISH, BACs) Results Acrocentric sSMC were detected in 74% (37/50) of cases . Inv dup(15) was the most commonly detected sSMC followed by inv dup(13 or 21) . Non acrocentric sSMC were detected in the rest of cases (26%, 13/50) . sSMC derived from chromosomes 2, 3, 4, 7, 8, 9, 11, 17, 18 (three cases), 20 and X were also identified and two of them were neocèntric (those derived from chromosomes 3 and 20) . In two cases, we detected at least 4 sSMC derived from the same chromosome but with different morphologies . In one they derived from chromosome 9 and in the other they derived from chromosome X . In general, we found according with the literature that the presence of euchromatin in the de novo sSMC is linked with an abnormal phenotype . Conclusion The use of combined molecular cytogenetic techniques revealed that the incidence of non acrocentric sSMC is probably higher than expected . ACKNOWLEDGMENTS: This work was supported by MCYT (SAF 2003-03894) and CIRIT (2005, SGR-00495) and Generalitat de Catalunya (Grant 2002FI00281) P02.094 Familial chromosomal rearrangement with an extra micro derivative 22 compensating a 22q11.2 deletion J. Nevado 1,2 , M. A. Mori 1,2 , L. Fernández 1,2 , P. D. Lapunzina 1,2 , B. Garcia 3 , M. L. De Torres 1,2 ; 1 Hospital Universitario la Paz, Genética Médica, MADRID, Spain, 2 CIBERER, Madrid, Spain, 3 Hospital Universitario Príncipe de Asturias, Bioquímica Clínica, Unidad de Genética, Alcalá de Henares (MADRID), Spain. We described a non-consanguineous couple (33 year-old) that underwent amniocentesis for prenatal cytogenetic studies (in the 15 th gestational week) due to the man is carrying an unusual rearrangement with an extra micro-chromosome, which renders a high probability to have cases of 22q11 .2 deletion syndrome in the family . His karyotype is: 46, XY [22%] /47, XY, + mar [78%] . ish del (22) (q11 .2 q11 .2) (D22S987E- D22S976E-)/ ish del (22) (q11 .2 q11 .2) (D22S987E-D22S976E-), + mar . ish der (22) (D22S987E-D22S976E+) . The prenatal cytogenetic study, including FISH, in amniotic fluid (43 cells studied from three independent cell cultures) and cord blood (100 cells studied) showed a deletion in region 22q11 .2: 46, XY . ish del (22) (q11 .2 q11 .2) (D22S987E-D22S976E-) . No trace of an extra microchromosome was found . In the Genetic counselling clinics the couple was told about the consequences of 22q11 .2 deletion syndrome and they decided termination of the pregnancy . An important remark in this family is that, members who are carrying the extra chromosome are phenotypically normal because they are chromosomically balanced at this region . Thus, it must be important to rule out the 22q11 .2 deletion, using FISH and/or MLPA, in members of the family with apparently normal number of chromosomes . P02.095 Autistic features with speech delay in a girl with an ~1.5 mb deletion in 6q16.1, including FUt9 and GPR63 K. W. Derwinska1,2 , J. Bernaciak1 , E. Obersztyn1 , E. Bocian1 , P. Stankiewicz1,2 ; 1 2 Institute of Mother and Child, Warsaw, Poland, Dept. of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, United States. Recent studies have shown that up to 40% of the apparently balanced reciprocal chromosome translocations in patients with abnormal phenotype can be accompanied by a chromosome imbalance . We present a 10-year-old girl with mild mental retardation, abnormal EEG, and autistic behavior, who began to speak at 5 years . She had no dysmorphic features and her brain MRI was normal . Karyotype analysis revealed a de novo apparently balanced translocation t(6;14)(q16;q22) . Whole genome array CGH analysis with ~385,000 oligonucleotide probes (NimbleGen) identified an ~1.48 Mb deletion in 6q16.1. FISH with BAC clones mapping within and directly flanking the deleted segment showed that the deletion arose at the translocation breakpoint . Interestingly, autism has been linked previously to chromosome 6q16 . The deleted segment harbors FUT9, GPR63, FHL5, KLHL32, c6orf66, and AK091365 and two predicted genes c6orf167 and KIA0776 . GPR63 is expressed almost exclusively in the brain and encodes a G-protein-coupled receptor for sphingosine 1-phosphate . The fucosyltransferase 9 gene, FUT9, is highly conserved among humans, mice, rats, and hamsters and is highly expressed in brain during embryogenesis . FUT9 is considered to be involved in cell-cell interactions, differentiation, and neurodevelopmental processes. Our data confirm previous observations that copy-number variation is a significant factor responsible for autistic spectrum behavior and speech delay .
Cytogenetics P02.096 Delineation of a critical Region on chromosome 18 for the del(18)(q12.2q21.1) syndrome K. Buysse 1 , B. Menten 1 , A. Oostra 2 , S. Tavernier 3 , G. R. Mortier 1 , F. Speleman 1 ; 1 Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, 2 Center for Developmental Disorders, Ghent University Hospital, Ghent, Belgium, 3 M.P.I.G.O. ‘t Vurstjen, Evergem, Belgium. Array CGH has been instrumental in the identification of submicroscopic chromosomal aberrations leading to mental retardation and congenital abnormalities (MR/MCA), the delineation of new microdeletion syndromes and the identification of genes implicated in MR/MCA syndromes . An important step prior to assigning particular phenotypic features to particular genes is the delineation of critical regions for these specific clinical features. To this purpose, smaller interstitial deletions can be particularly important. In some syndromes, haploinsufficiency of a single gene appears to be responsible for most of the phenotypic features, as is the case for the EHMT1 gene in the 9q34 subtelomeric deletion syndrome . In contrast to distal 18q deletions, proximal interstitial deletions encompassing chromosome band 18q12 .3 and parts of neighboring bands (q12.2→q21.1) have been reported less frequently. Up to now, 24 patients carrying such deletions were described . Accurate genotype-phenotype correlations are only possible for those cases for which breakpoints have been molecularly defined. Here we describe a boy with a submicroscopic deletion of less than 1 .8 Mb of subband 18q12 .3 . The phenotypic features of the proband correspond well with those observed in patients with larger cytogenetically detectable deletions encompassing chromosome band 18q12 .3 . The deletion has been characterized at the molecular level which is important for defining small regions and eventually specific genes associated with specific phenotypic features. The deletion enabled us to define a critical region for the following features of the del(18)(q12 .2q21 .1) syndrome: hypotonia, expressive language delay, short stature and behavioral problems . P02.097 A novel sex determining locus in a 46,XX-sRY negative sex reversal patient carrying a t(8;19)(q22.1;q13.1) N. Najera, J. Berumen, S. Kofman, J. Perez, G. Queipo; Hospital General de Mexico/Facultad de Medicina, Mexico City, Mexico. The sex determining genes SRY and SOX9 are required to initiate and maintain testicular development . However, genetic interactions controlling the earliest steps in gonadal development remain poorly understood . The molecular abnormalities underlying a high proportion of XX maleness remain undiscovered . Using of high density SNP array in sex reversal patients could be useful to characterize the etiology of the abnormal gonadal development and provide new molecular insights into the normal regulatory network in the testis and ovary development . We performed SNPs microarray genotyping (Affymetrix geneChip 500k) to investigate homozygosity mapping and LOH in a nuclear family (mother, father, siblings) of a 46,XX-SRY negative male carrying a t(8;19)(q22 .1;q13 .1) . In addition we analyzed 10 sporadic SRY negative XX male . The results were also compared with the International HapMap . The analysis of the break points in the patient revealed in chromosome 19 three intervals with 59, 89, 25 and 15 homozygous SNPs and three regions containing 83, 73 and 57 LOH SNPs located in chromosome 8 . Analysis of the data revealed four sex determining genes candidates, we present and discuss the genomic data and the analysis performed in order to identify a novel locus involved in the testicular development in humans . P02.098 Prenatally diagnosed recombinant offsprings resulting from adjacent-1, adjacent-2, 3:1 segregation modes of reciprocal translocations:fish and cytogenetic studies O. Sezer, F. Ekici, B. Ozyilmaz, M. Tosun, M. Ceyhan, O. Aydın, I. Kocak, G. Ogur; Ondokuz Mayis University Medical Faculty, Samsun, Turkey. Balanced translocation carriers can have recombinant offsprings due to adjacent-1, adjacent-2, 3:1 and 4:0 segregation modes . Here, we report three prenatally diagnosed recombinant fetuses resulting from balanced parental translocations . Case1:Amniocentesis was performed because of bilateral choroid plexus cysts and hyperechogenic bowel . Fetal karyotype showed a derivative chromosome 1p[46,XY,der(1)t(1;?)(p36,1;?)] which was paternally originated:46,XY,t(1;8) (p36,1;p21,3)]. FISH confirmed translocation between chromosomes 1 and 8; fetal karyotype was interpreted as partial monosomy 1p/partial trisomy 8p . Adjacent-1 segregation mode was suggested . Parents decided to terminate the pregnancy . Fetus presented facial dysmorphism, limb abnormalities, cerebellar hypoplasia, ventriculomegaly, bilateral choroid plexus cysts, lung defects . Case2:Amniocentesis was performed due to fetal abnormalities: cleft lip/palate, tetralogy of fallot, ASD, single artery/vein of umbilical cord . Cytogenetics revealed unbalanced chromosomal translocation:46,XY, der(15)t(10;15) (q22,2;q11,2), paternally derived [46,XY,t(10;15)(q22,2 ;q11,2)] . Adjacent-2 segregation mode was suggested . FISH analysis confirmed der(15)t(10;15). Pregnancy ended spontaneously after amniocentesis . The fetus couldn’t be investigated . Case3:Amniocentesis was performed because of positive maternal serum triple screening . Cytogenetics revealed a surnumerary chromosome(47,XY,+mar) . Parents were karyotyped . The mother showed balanced reciprocal translocation:t(2;14)(p23;q23) . Surnumerary chromosome was identified as part of chromosome 14 (FISH analysis) . Fetal karyotype was interpreted as:47,XY,+der(14)t(2;14)(p 23;q23)mat; partial trisomy 2p/partial trisomy 14q due to 3:1 segregation was suggested . Pregnancy was terminated . Extensive clinical evaluation showed fetal dysmorphism and open cranial sutures . P02.099 male pseudohermaphroditism: a case report N. Andreescu, V. Belengeanu, D. Stoicanescu, S. Farcas, C. Popa, M. Stoian; University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania. Male pseudohermaphroditism is characterized by the presence of 46, XY karyotype, exclusively male gonads and ambiguous or female external and/or internal genitalia, caused by incomplete virilization during prenatal life . We report the case of an infant, in whom physical examination showed ambiguous external genitalia and some dysmorphic features . Cytogenetic investigation was performed for the correct assignment of the gender and chromosome analysis in blood lymphocytes revealed male genetic sex . The ambivalent aspect of the external genitalia, the gonads that are exclusively testes together with the result of the cytogenetic analysis showing male genetic sex, led to the diagnosis of male pseudohermaphroditism . A multidisciplinary approach involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment . In conclusion, careful examination of the external genitalia of every newborn should be systematic . Early diagnosis of a disorder of sexual development is of great importance as is the appropriate gender assignment . The most important decision will be the choice of sex assignment, which will depend on many complex factors . Birth registration should be postponed until the diagnostic evaluation enables the most appropriate choice of sex for rearing . The clinical management will help the child and the family deal effectively with this disorder . P02.100 PcR based technique for sex selection in cattle E. Arbabai1 , F. Mahjoubi1 , M. Eskandainasab2 , M. Montazeri1 ; 1 2 NRCGEB, Tehran, Islamic Republic of Iran, Zanjan university, Tehran, Islamic Republic of Iran. Embryo sexing is an important way for sex selection of offspring . This is a potential method to considerably improve animal breeding and the efficiency of dairy and meat production. A novel repeated sequence specific to male cattle has been identified and named S4. S4 is a 1/5 Kb repeating unit and which also contains various internal repeated sequence . S4 is localized on the long arm of the Y chromosome in the region of ZFY genes . Aim: The objective of this study is to identify embryo sexing by a simple and precise PCR method . Materials and Methods: Genomic DNA was extracted from the whole blood samples. Two sets of specific primers were designed Result: By this PCR based methods we could differentiate between female and male genomic DNA . Discussion: With this technique we can distinct males from females . This method has the potential to be employed for embryonic sex selection .
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Author Index Al-Owain, M.: P06.160
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Author Index 0 Baka, M.: P04.082 Ba
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Author Index Berwouts, S.: P09.20,
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Author Index Grinberg, Y. I.: P01.0
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index Taschner, P. E. M.: P0
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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