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Article: Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.

Goumy, Carole / Ouedraogo, Zangbéwendé Guy / Bellemonte, Elodie / Eymard-Pierre, Eleonore / Soler, Gwendoline / Perthus, Isabelle / Pebrel-Richard, Céline / Gouas, Laetitia / Salaun, Gaëlle / Véronèse, Lauren / Laurichesse, Hélène / Darcha, Claude / Tchirkov, Andrei

Diagnostics (Basel, Switzerland)

2023 Volume 13, Issue 23

Abstract: Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. ... ...

Abstract	Optical genome mapping (OGM) is an alternative to classical cytogenetic techniques to improve the detection rate of clinically significant genomic abnormalities. The isolation of high-molecular-weight (HMW) DNA is critical for a successful OGM analysis. HMW DNA quality depends on tissue type, sample size, and storage conditions. We assessed the feasibility of OGM analysis of DNA from nine umbilical cord (UC) and six chorionic villus (CV) samples collected after the spontaneous or therapeutic termination of pregnancy. We analyzed quality control metrics provided by the Saphyr system (Bionano Genomics) and assessed the length of extracted DNA molecules using pulsed-field capillary electrophoresis. OMG data were successfully analyzed for all six CV samples. Five of the UC samples did not meet the Saphyr quality criteria, mainly due to poor DNA quality. In this regard, we found that DNA quality assessment with pulsed-field capillary electrophoresis can predict a successful OGM analysis. OGM data were fully concordant with the results of standard cytogenetic methods. Moreover, OGM detected an average of 14 additional structural variants involving OMIM genes per sample. On the basis of our results, we established the optimal conditions for sample storage and preparation required for a successful OGM analysis. We recommend checking DNA quality before analysis with pulsed-field capillary electrophoresis if the storage conditions were not ideal or if the quality of the sample is poor. OGM can therefore be performed on fetal tissue harvested after the termination of pregnancy, which opens up the perspective for improved diagnostic yield.
Language	English
Publishing date	2023-11-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662336-5
ISSN	2075-4418
ISSN	2075-4418
DOI	10.3390/diagnostics13233576
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Article ; Online: Optical genome mapping for prenatal diagnosis: A prospective study.

Goumy, Carole / Guy Ouedraogo, Zangbéwendé / Soler, Gwendoline / Eymard-Pierre, Eleonore / Laurichesse, Hélène / Delabaere, Amélie / Gallot, Denis / Bouchet, Pamela / Perthus, Isabelle / Pebrel-Richard, Céline / Gouas, Laetitia / Salaun, Gaëlle / Salse, Jérôme / Véronèse, Lauren / Tchirkov, Andrei

Clinica chimica acta; international journal of clinical chemistry

2023 Volume 551, Page(s) 117594

Abstract: Purpose: Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality ... ...

Abstract	Purpose: Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods. Methods: A total of 37 prenatal samples from pregnancies with a fetal anomaly on ultrasound were analyzed prospectively by OGM between January 1, 2021 and June 31, 2022. OGM results were interpreted blindly and compared to the results obtained by standard techniques. Results: OGM results were interpretable in 92% of samples. We observed 100% concordance between OGM and karyotype and/or chromosomal microarray results. In addition, OGM identified a median of 30 small (<100 kb) structural variations per case with the involvement of 12 OMIM genes, of which 3 were OMIM morbid genes. Conclusion: This prospective study showed OGM performed well in detecting genomic alterations in cell cultures from prenatal samples. The place of OGM in relation to CMA or exome sequencing remains to be defined in order to optimize the prenatal diagnostic procedure.
MeSH term(s)	Pregnancy ; Female ; Humans ; Prospective Studies ; Retrospective Studies ; Karyotyping ; Cytogenetic Analysis ; Chromosome Mapping ; Prenatal Diagnosis ; Chromosome Aberrations
Language	English
Publishing date	2023-10-12
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	80228-1
ISSN	1873-3492 ; 0009-8981
ISSN (online)	1873-3492
ISSN	0009-8981
DOI	10.1016/j.cca.2023.117594
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Article ; Online: Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

Goumy, Carole / Veronese, Lauren / Stamm, Rodrigue / Domas, Quentin / Hadjab, Kamil / Gallot, Denis / Laurichesse, Hélène / Delabaere, Amélie / Gouas, Laetitia / Salaun, Gaelle / Perbel-Richard, Céline / Vago, Philippe / Tchirkov, Andrei

Human molecular genetics

2022 Volume 31, Issue 16, Page(s) 2669–2677

Abstract: Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this stage of development. Previous studies have shown that telomere ... ...

Abstract	Telomeres protect chromosome ends and control cell division and senescence. During organogenesis, telomeres need to be long enough to ensure the cell proliferation necessary at this stage of development. Previous studies have shown that telomere shortening is associated with growth retardation and congenital malformations. However, these studies were performed in newborns or postnatally, and data on telomere length (TL) during the prenatal period are still very limited. We measured TL using quantitative PCR in amniotic fluid (AF) and chorionic villi (CV) samples from 69 control fetuses with normal ultrasound (52 AF and 17 CV) and 213 fetuses (165 AF and 48 CV) with intrauterine growth retardation (IUGR) or congenital malformations diagnosed by ultrasound. The samples were collected by amniocentesis at the gestational age (GA) of 25.0 ± 5.4 weeks and by CV biopsy at 18.1 ± 6.3 weeks. In neither sample type was TL influenced by GA or fetal sex. In AF, a comparison of abnormal versus normal fetuses showed a significant telomere shortening in cases of IUGR (reduction of 34%, P < 10-6), single (29%, P < 10-6) and multiple (44%, P < 10-6) malformations. Similar TL shortening was also observed in CV from abnormal fetuses but to a lesser extent (25%, P = 0.0002; 18%, P = 0.016; 20%, P = 0.004, respectively). Telomere shortening was more pronounced in cases of multiple congenital anomalies than in fetuses with a single malformation, suggesting a correlation between TL and the severity of fetal phenotype. Thus, TL measurement in fetal samples during pregnancy could provide a novel predictive marker of pathological development.
MeSH term(s)	Biomarkers ; Female ; Fetal Development ; Fetal Growth Retardation/diagnosis ; Fetal Growth Retardation/genetics ; Humans ; Pregnancy ; Telomere/genetics ; Telomere Shortening/genetics
Chemical Substances	Biomarkers
Language	English
Publishing date	2022-03-04
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac054
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Article ; Online: Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

Cherik, Florian / Lepage, Mathis / Remerand, Ganaelle / Francannet, Christine / Delabaere, Amélie / Salaun, Gaëlle / Pebrel-Richard, Céline / Gouas, Laetitia / Vago, Philippe / Tchirkov, Andrei / Goumy, Carole

European journal of medical genetics

2021 Volume 64, Issue 9, Page(s) 104287

Abstract: Background: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear.: Case presentation: We report two new cases of 860 kb ... ...

Abstract	Background: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear. Case presentation: We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1, INSYN2, NPS and FOX12. The proband had dysmorphic facies characterized by a high forehead, malformed ears, a prominent nose, and retrognathia. He had bilateral club feet, clinodactily and mild psychomotor retardation. His mother had a short stature, microcephaly, a long face with a high forehead and bitemporal narrowing, arched and sparse eyebrows, strabismus, prominent nose and chin, a thin upper lip and large protruding ears, and mild intellectual disability. Conclusions: This study presents the smallest 10q26.2 deletion so far identified, which further refines the minimal critical region associated with the 10q26 microdeletion syndrome. It focuses on three genes potentially responsible for the phenotype: DOCK1, which is the major candidate gene, and INSYN2 and NPS, which could be involved in cognitive functions.
MeSH term(s)	Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 10/genetics ; Cognition ; Facies ; Female ; Humans ; Infant ; Learning Disabilities/genetics ; Learning Disabilities/pathology ; Male ; Neuropeptides/genetics ; Phenotype ; rac GTP-Binding Proteins/genetics
Chemical Substances	DOCK1 protein, human ; Neuropeptides ; neuropeptide S, human ; rac GTP-Binding Proteins (EC 3.6.5.2)
Language	English
Publishing date	2021-07-09
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2021.104287
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Article ; Online: Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.

Mourgues, Charline / Eymard-Pierre, Eléonore / Laurichesse-Delmas, Hélène / Gerbaud, Laurent / Gouas, Laëtitia / Pébrel-Richard, Céline / Vago, Philippe / Debost-Legrand, Anne / Goumy, Carole

Annales de biologie clinique

2020 Volume 78, Issue 5, Page(s) 483–491

Abstract: Objective: Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations.: Methods: Cytogenetic ... ...

Abstract	Objective: Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations. Methods: Cytogenetic tests were performed for each case in 3 strategies, and their results are reported and compared to one reference strategy. Two new simulated strategies were considered: chromosomal microarrays alone and a direct test + CMA. Main outcomes measures: cost-effectiveness ratio. Results: A single test result was positive in 234 of the 835 pregnancies studied (28%). CMA alone would have identified 239 abnormalities. In the simulated direct test + CMA sequence, the direct test alone would have been positive for 66.1% of the abnormalities identified. When testing was indicated for NT, reference strategy (Direct + karyotyping) costs 1 084.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively 992.7 and 550.0 euros by positive test results. For OUM indications, reference strategy costs 2 937.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively, 2 118.4 and 1 304.7 euros by positive test results. Conclusions: CMA appears to be the most effective test for prenatal cytogenetic diagnosis of fetal abnormalities identified by ultrasound.
MeSH term(s)	Adult ; Algorithms ; Chromosome Aberrations ; Cost-Benefit Analysis ; Cytogenetic Analysis/economics ; Cytogenetic Analysis/methods ; Decision Trees ; Female ; Fetal Diseases/diagnosis ; Fetal Diseases/genetics ; Fetus/abnormalities ; Fetus/diagnostic imaging ; France ; Humans ; Karyotyping/economics ; Karyotyping/methods ; Predictive Value of Tests ; Pregnancy ; Prenatal Diagnosis/economics ; Prenatal Diagnosis/methods ; Retrospective Studies ; Ultrasonography, Prenatal/economics
Language	English
Publishing date	2020-09-15
Publishing country	France
Document type	Journal Article
ZDB-ID	418098-7
ISSN	1950-6112 ; 0003-3898
ISSN (online)	1950-6112
ISSN	0003-3898
DOI	10.1684/abc.2020.1580
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Article: Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage.

Mellali, Sarah / Haoud, Khadidja / Gouas, Laetitia / Khaled, Meghit Boumediene / Vago, Philippe / Moulessehoul, Soraya

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde

2015 Volume 105, Issue 10, Page(s) 870–873

Abstract: Background: Fifty percent of spontaneous miscarriages (SMs) are attributed to chromosomal abnormalities. Cytogenetic analysis is an important tool for patient counselling and assessment of the risk of recurrence in future pregnancies. Conventional ... ...

Abstract	Background: Fifty percent of spontaneous miscarriages (SMs) are attributed to chromosomal abnormalities. Cytogenetic analysis is an important tool for patient counselling and assessment of the risk of recurrence in future pregnancies. Conventional karyotyping has been the gold standard for chromosomal investigation of products of conception (POC), but it has limitations due to sample maceration, culture failure and maternal cell contamination. Molecular cytogenetic approaches have therefore been developed and found valuable in the cytogenetic investigation of these samples. The Prenatal BoBsTM and KaryoLite BoBsTM, based on the newly developed BACs-on-BeadsTM technology, have been described as reliable tests for rapid detection of aneuploidies in prenatal and POC samples, respectively. Objective: To describe our clinical experience of routine screening of POC samples with Prenatal BoBsTM, the test used by our laboratory in France. Methods: Seventeen samples collected at the University Hospital of Sidi Bel Abbès (Western Algeria) and a further 60 from the University Hospital of Clermont-Ferrand (France) were analysed (19 chorionic villi from products of curettage, 12 placentas, 9 amniotic cells and 37 biopsy specimens). All were screened for the frequent aneuploidies (chromosomes 13, 18, 21, X and Y) in addition to nine microdeletion/microduplication syndrome regions by Prenatal BoBsTM. Standard karyotyping was performed on 51 samples, but failed in 38 cases. Results: Prenatal BoBsTM identified one trisomy 21 and one deletion of 17p13.3. Furthermore, it provided a conclusive result in cases of culture failure (n=38) and in samples with macerated tissue (n=19). The overall failure rate was 11.4%. Conclusions: Prenatal BoBsTM is a promising technology that represents a fast, sensitive and robust alternative to routine screening for chromosomal abnormality in products of SM. Furthermore, it overcomes the limitations of conventional karyotyping and current molecular cytogenetic techniques.
Language	English
Publishing date	2015-09-19
Publishing country	South Africa
Document type	Journal Article
ZDB-ID	390968-2
ISSN	2078-5135 ; 0256-9574 ; 0038-2469
ISSN (online)	2078-5135
ISSN	0256-9574 ; 0038-2469
DOI	10.7196/SAMJnew.8121
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Ua VI Zs.406: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Salaun, Gaëlle / Tchirkov, Andrei / Francannet, Christine / Pons, Hanae / Brugnon, Florence / Pebrel-Richard, Celine / Gouas, Laetitia / Eymard-Pierre, Eleonore / Vago, Philippe / Goumy, Carole

Reproductive biomedicine online

2018 Volume 37, Issue 1, Page(s) 100–106

Abstract: Research question: Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) carriers? How do these imbalances lead to recurrent miscarriages?: ... ...

Abstract	Research question: Is sperm fluorescence in-situ hybridization (FISH) useful to evaluate the risk of chromosomally unbalanced gametes in interchromosomal reciprocal insertion (IRI) carriers? How do these imbalances lead to recurrent miscarriages? Design: This study reports a clinical and molecular study of a rare familial balanced IRI resulting in recurrent spontaneous miscarriage. Sperm FISH was performed to estimate the number of unbalanced gametes. Results: A 31-year-old healthy male (proband) and his 28-year-old female partner were referred to the Genetics Department for three spontaneous miscarriages occurring during the first trimester of pregnancy. FISH analysis of the proband with the LSI TRA/D (14q11.2) and DiGeorge N25 (22q11.2) break-apart probes showed the presence of a balanced IRI between 14q11.2 and 22q11.2 chromosomal regions. This IRI was also identified in the proband's father. Sperm FISH with the same probes showed that more than 40% of gametes of the proband were unbalanced for either 14q11.2 or 22q11.2, despite normal sperm parameters. FISH analysis of a product of conception indicated that unbalanced gametes result in a non-viable fetus. Conclusions: This study shows the value of sperm FISH analysis in improving genetic reproductive advice for IRI carriers. Disruption of critical genes through this rearrangement and their consequent functional impairment could result in recurrent miscarriages. In this case, several genes located in the 14q11.2 region, particularly RNase 3, would be good candidates to explain the lethality of the imbalances.
MeSH term(s)	Abortion, Habitual/genetics ; Adult ; Chromosome Segregation ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Meiosis ; Pregnancy ; Semen Analysis ; Spermatozoa/metabolism ; Translocation, Genetic
Language	English
Publishing date	2018-04-09
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	2113823-0
ISSN	1472-6491 ; 1472-6483
ISSN (online)	1472-6491
ISSN	1472-6483
DOI	10.1016/j.rbmo.2018.03.019
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Zs.A 5792: Show issues

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Article ; Online: Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Kemeny, Stephan / Tatout, Christophe / Salaun, Gaelle / Pebrel-Richard, Céline / Goumy, Carole / Ollier, Natasha / Maurin, Eugenie / Pereira, Bruno / Vago, Philippe / Gouas, Laetitia

Chromosoma

2017 Volume 127, Issue 2, Page(s) 247–259

Abstract: In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about ... ...

Abstract	In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes. We have established an experimental design based on cultured chorionic villus cells which keep their original mesenchymal features including a characteristic ellipsoid nuclear morphology and a radial CT distribution that correlates with chromosome size. Our study suggests that in trisomy 21 nuclei, the extra HSA21 induces a shift of HSA1 and HSA3 CTs out toward a more peripheral position in nuclear space and a higher compaction of HSA1 and HSA17 CTs. We posit that the presence of a supernumerary chromosome 21 alters chromosome compaction and results in displacement of other chromosome territories from their usual nuclear position.
MeSH term(s)	Amniocentesis ; Aneuploidy ; Cell Nucleus/metabolism ; Cell Nucleus/ultrastructure ; Chorionic Villi/metabolism ; Chorionic Villi/ultrastructure ; Chromatin/metabolism ; Chromatin/ultrastructure ; Down Syndrome/genetics ; Down Syndrome/metabolism ; Down Syndrome/pathology ; Female ; Fibroblasts/metabolism ; Fibroblasts/ultrastructure ; Humans ; In Situ Hybridization, Fluorescence ; Interphase ; Karyotyping ; Lymphocytes/metabolism ; Lymphocytes/ultrastructure ; Pregnancy ; Primary Cell Culture ; Translocation, Genetic
Chemical Substances	Chromatin
Language	English
Publishing date	2017-12-14
Publishing country	Austria
Document type	Journal Article
ZDB-ID	203083-4
ISSN	1432-0886 ; 0009-5915
ISSN (online)	1432-0886
ISSN	0009-5915
DOI	10.1007/s00412-017-0653-6
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Article ; Online: A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.

Goumy, Carole / Gay-Bellile, Mathilde / Salaun, Gaelle / Kemeny, Stephan / Eymard-Pierre, Eleonore / Biard, Marie / Pebrel-Richard, Celine / Vanlieferinghen, Philippe / Francannet, Christine / Tchirkov, Andrei / Laurichesse, Helene / Rouzade, Charles / Gouas, Laetitia / Vago, Philippe

Birth defects research. Part A, Clinical and molecular teratology

2016 Volume 106, Issue 9, Page(s) 793–797

Abstract: Background: Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (<6 Mb) have been reported. These deletions can cause a variable ... ...

Abstract	Background: Microdeletions encompassing chromosome bands 2q14.1q14.3 are rare. To date, eight reports of relatively large deletions of this region (∼20 Mb) but only two small deletions (<6 Mb) have been reported. These deletions can cause a variable phenotype depending on the size and location of the deletion. Cognitive disability, facial dysmorphism, and postnatal growth retardation are the most common phenotypic features. Case: We report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. The deletion contained 24 coding genes including STEAP3, GLI2, and RNU4ATAC and was inherited from the mild affected mother. A sibling developmental delay and similar dysmorphic facial features was found to have inherited the same deletion. Conclusion: This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that GLI2 is a dosage-sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A) 106:793-797, 2016. © 2016 Wiley Periodicals, Inc.
MeSH term(s)	Adult ; Agenesis of Corpus Callosum/genetics ; Chromosome Deletion ; Chromosomes, Human, Pair 2/genetics ; Female ; Fetal Growth Retardation/genetics ; Humans ; Kruppel-Like Transcription Factors/genetics ; Nuclear Proteins/genetics ; Pregnancy ; RNA, Small Nuclear/genetics ; Zinc Finger Protein Gli2
Chemical Substances	GLI2 protein, human ; Kruppel-Like Transcription Factors ; Nuclear Proteins ; RNA, Small Nuclear ; RNU4ATAC RNA, human ; Zinc Finger Protein Gli2
Language	English
Publishing date	2016-09
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2104792-3
ISSN	1542-0760 ; 1542-0752 ; 1542-9733 ; 1542-975X
ISSN (online)	1542-0760
ISSN	1542-0752 ; 1542-9733 ; 1542-975X
DOI	10.1002/bdra.23535
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Article ; Online: An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.

Pebrel-Richard, Céline / Kemeny, Stéphan / Gouas, Laetitia / Eymard-Pierre, Eléonore / Blanc, Nathalie / Francannet, Christine / Tchirkov, Andreï / Goumy, Carole / Vago, Philippe

European journal of medical genetics

2012 Volume 55, Issue 11, Page(s) 650–655

Abstract: Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features ... ...

Abstract	Microduplications 22q11.2 have been recently characterized as a new genomic duplication syndrome showing an extremely variable phenotype ranging from normal or mild learning disability to multiple congenital defects and sharing some overlapping features with DiGeorge/velocardiofacial syndrome (DGS/VCFS), including heart defects, urogenital abnormalities and velopharyngeal insufficiency. We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. This 22q11.2 microduplication was identified by MLPA, designed to detect recurrent microdeletions and microduplications of chromosomal regions frequently involved in mental retardation syndromes and was further characterized by aCGH. The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype. To the best of our knowledge, only one case of an isolated duplication in the distal segment of the TDR between chromosome 22-specific low-copy repeats B (LCR22-B) and D (LCR22-D) has been published, but the present report is the first one with a detailed description of physical and developmental features in a patient carrying this kind of atypical 22q11.2 duplication. This case illustrates the importance of reporting unusual 22q11.2 duplications to further evaluate the incidence of these rearrangements in the general population and to improve genotype-phenotype correlations and genetic counseling.
MeSH term(s)	Abnormalities, Multiple/genetics ; Child, Preschool ; Chromosome Duplication/genetics ; Chromosomes, Human, Pair 22/genetics ; Comparative Genomic Hybridization ; DiGeorge Syndrome/genetics ; Genetic Loci ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; Psychomotor Disorders/genetics
Language	English
Publishing date	2012-11
Publishing country	Netherlands
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2012.06.014
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