Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and...
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2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/592702 |
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| author | Jonathan Lévy Jean-Marie Jouannic Julien Saada Ferdinand Dhombres Jean-Pierre Siffroi Marie-France Portnoï |
| author_facet | Jonathan Lévy Jean-Marie Jouannic Julien Saada Ferdinand Dhombres Jean-Pierre Siffroi Marie-France Portnoï |
| author_sort | Jonathan Lévy |
| collection | DOAJ |
| description | Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy. |
| format | Article |
| id | doaj-art-0c4430378d854e8c80781c90a53b3b34 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
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| series | Case Reports in Genetics |
| spelling | doaj-art-0c4430378d854e8c80781c90a53b3b342025-02-03T01:09:41ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/592702592702Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 MosaicismJonathan Lévy0Jean-Marie Jouannic1Julien Saada2Ferdinand Dhombres3Jean-Pierre Siffroi4Marie-France Portnoï5Service de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceCentre Pluridisciplinaire de Diagnostic Prénatal de l’Est Parisien, Pôle de Périnatalité, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceCentre Pluridisciplinaire de Diagnostic Prénatal de l’Est Parisien, Pôle de Périnatalité, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceCentre Pluridisciplinaire de Diagnostic Prénatal de l’Est Parisien, Pôle de Périnatalité, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceService de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceService de Génétique et d’Embryologie Médicales, Hôpital Armand Trousseau, APHP, UPMC, 75012 Paris, FranceEctrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are autosomal dominant traits, involving various chromosome regions. Bilateral radial ray defects comprise also a large heterogenous group of disorders, including trisomy 18, Fanconi anemia, and thrombocytopenia-absent-radius syndrome, not commonly associated with ectrodactyly. The present paper describes a case of ectrodactyly associated with bilateral radial ray defects, diagnosed in the first trimester of pregnancy, in a fetus affected by trisomy 10. Only four cases of sporadic and isolated ectrodactyly, diagnosed by ultrasonography between 14 and 22 weeks’ gestation, have been reported. To our knowledge, the present case is the first report of mosaic trisomy 10 associated with SHFM and radial aplasia. Trisomy 10 is a rare lethal chromosomal abnormality, most frequently found in abortion products. Only six liveborn mosaic trisomy 10 infants, with severe malformations, dead in early infancy, have been reported. A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy.http://dx.doi.org/10.1155/2013/592702 |
| spellingShingle | Jonathan Lévy Jean-Marie Jouannic Julien Saada Ferdinand Dhombres Jean-Pierre Siffroi Marie-France Portnoï Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism Case Reports in Genetics |
| title | Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism |
| title_full | Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism |
| title_fullStr | Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism |
| title_full_unstemmed | Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism |
| title_short | Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism |
| title_sort | prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism |
| url | http://dx.doi.org/10.1155/2013/592702 |
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