Antenatal description of large 4q13.2q21.23 deletion and outcomes
Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions....
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2024-02-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.2397 |
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| author | Anna‐Gaëlle Giguet‐Valard Christelle Thevenin Sophie Dreux Valérie Decatrelle Marie‐Laure Juve Soraya Yazza Clara Adenet Marion Lesueur Patrice Bouvagnet Michèle Gueneret |
| author_facet | Anna‐Gaëlle Giguet‐Valard Christelle Thevenin Sophie Dreux Valérie Decatrelle Marie‐Laure Juve Soraya Yazza Clara Adenet Marion Lesueur Patrice Bouvagnet Michèle Gueneret |
| author_sort | Anna‐Gaëlle Giguet‐Valard |
| collection | DOAJ |
| description | Abstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype–phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome. Methods We report here the first antenatal history of one of the largest deletion of this region. Results Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21. Conclusion From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound. |
| first_indexed | 2024-03-07T21:32:44Z |
| format | Article |
| id | doaj.art-6704bc2b360d4526a5cfba13553c780b |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T21:32:44Z |
| publishDate | 2024-02-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-6704bc2b360d4526a5cfba13553c780b2024-02-26T14:52:29ZengWileyMolecular Genetics & Genomic Medicine2324-92692024-02-01122n/an/a10.1002/mgg3.2397Antenatal description of large 4q13.2q21.23 deletion and outcomesAnna‐Gaëlle Giguet‐Valard0Christelle Thevenin1Sophie Dreux2Valérie Decatrelle3Marie‐Laure Juve4Soraya Yazza5Clara Adenet6Marion Lesueur7Patrice Bouvagnet8Michèle Gueneret9Multidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FrancePrivate Laboratory for Biological Tests – BIOLAB Martinique Fort‐de‐France FrancePre‐Natal Biochemistry Unit, Biochemistry‐Hormonology Laboratory Robert Debré Hospital, DMU Biogem AP‐HP Paris FranceMultidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FranceMultidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FranceMultidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FranceRadiology Department University Hospital Center of Martinique Fort‐de‐France FranceGenomic Laboratory University Hospital of Necker Paris FranceMultidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FranceMultidisciplinary Department for Antenatal Diagnosis/Rare Neurological and Neuromuscular Disorders University Hospital Center of Martinique Fort‐de‐France FranceAbstract Background 4q21 microdeletion syndrome is an emergent non‐recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype–phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome. Methods We report here the first antenatal history of one of the largest deletion of this region. Results Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21. Conclusion From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.https://doi.org/10.1002/mgg3.23974q21 microdeletion syndromeantenatal descriptionbony anomalies of the extremitiesexcess of amniotic fluidfull cheeksshort long bones |
| spellingShingle | Anna‐Gaëlle Giguet‐Valard Christelle Thevenin Sophie Dreux Valérie Decatrelle Marie‐Laure Juve Soraya Yazza Clara Adenet Marion Lesueur Patrice Bouvagnet Michèle Gueneret Antenatal description of large 4q13.2q21.23 deletion and outcomes Molecular Genetics & Genomic Medicine 4q21 microdeletion syndrome antenatal description bony anomalies of the extremities excess of amniotic fluid full cheeks short long bones |
| title | Antenatal description of large 4q13.2q21.23 deletion and outcomes |
| title_full | Antenatal description of large 4q13.2q21.23 deletion and outcomes |
| title_fullStr | Antenatal description of large 4q13.2q21.23 deletion and outcomes |
| title_full_unstemmed | Antenatal description of large 4q13.2q21.23 deletion and outcomes |
| title_short | Antenatal description of large 4q13.2q21.23 deletion and outcomes |
| title_sort | antenatal description of large 4q13 2q21 23 deletion and outcomes |
| topic | 4q21 microdeletion syndrome antenatal description bony anomalies of the extremities excess of amniotic fluid full cheeks short long bones |
| url | https://doi.org/10.1002/mgg3.2397 |
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