Familial 18 centromere variant resulting in difficulties in interpreting prenatal interphase FISH : [Difficultés à l'interprétation d'une FISH interphasique prénatale en rapport avec la présence d'un variant centromérique familial d'un chromosome 18]
| Autor: | Bourthoumieu, Sylvie, Esclaire, Françoise, Terro, Faraj, Brosset, Philippe, Fiorenza, Maryse, Aubard, Véronique, Beguet, Mathilde, Yardin, Catherine |
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| Přispěvatelé: | Service d'Histologie, cytologie, cytogénétique, biologie cellulaire [CHU Limoges], CHU Limoges, Homéostasie Cellulaire et Pathologies (HCP), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-CHU Limoges, Service de Pédiatrie médicale [CHU Limoges], Service de Gynécologie-Obstétrique [CHU Limoges], Equipe de Recherche Médicale Appliquée (ERMA), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Université de Limoges (UNILIM)-CHU Limoges |
| Jazyk: | angličtina |
| Rok vydání: | 2010 |
| Předmět: |
[SDV.GEN]Life Sciences [q-bio]/Genetics
MESH: Humans MESH: DiGeorge Syndrome [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology MESH: Male MESH: Interphase MESH: Chromosomes Human X MESH: Chromosomes Human Y MESH: Pregnancy MESH: Fetal Heart [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN] MESH: Abortion Induced [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] MESH: Genetic Variation MESH: In Situ Hybridization Fluorescence MESH: Prenatal Diagnosis MESH: Chromosomes Human Pair 18 MESH: Female |
| Zdroj: | Morphologie : bulletin de l'Association des anatomistes Morphologie : bulletin de l'Association des anatomistes, 2010, 94 (306), pp.68-72. ⟨10.1016/j.morpho.2010.02.016⟩ |
| DOI: | 10.1016/j.morpho.2010.02.016⟩ |
| Popis: | ERMA; International audience; We report here on a familial case of centromeric heteromorphism of chromosome 18 detected by prenatal interphase fluorescence in situ hybridization (FISH) analysis transmitted by the mother to her fetus, and resulting in complete loss of one 18 signal. The prenatal diagnosis was performed by interphase FISH (AneuVysion probe set, and LSI DiGeorge 22q11.2 kit) because of the presence of an isolated fetal cardiac abnormality, and was first difficult to interpret: only one centromeric 18 signal was detectable on prenatal interphase nuclei, along with one signal for the Y and one for the X chromosome. The LSI DiGeorge 22q11.2 kit also showed the absence of one TUPLE 1 signal on all examined nuclei. In fact, the FISH performed on maternal buccal smear displayed the same absence of one chromosome 18 centromeric signal, combined with the presence of two TUPLE1 signals. All these results led to the diagnosis of an isolated 22q11.2 fetal microdeletion that was confirmed on metaphases spreads. This case illustrates once again that the locus specific (LSI) probes are more effective than the alpha centromeric probes for interphase analysis. The development of high-quality LSI probes for chromosomes 18, X and Y could avoid the misinterpretation of prenatal interphase FISH leading to numerous additional and expensive investigations. |
| Databáze: | OpenAIRE |
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