Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability....
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2015/943905 |
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| author | Guillaume Jedraszak Aline Receveur Joris Andrieux Michèle Mathieu-Dramard Henri Copin Gilles Morin |
| author_facet | Guillaume Jedraszak Aline Receveur Joris Andrieux Michèle Mathieu-Dramard Henri Copin Gilles Morin |
| author_sort | Guillaume Jedraszak |
| collection | DOAJ |
| description | Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally. |
| format | Article |
| id | doaj-art-223d89fc6b9448c4a8997cfba847f788 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-223d89fc6b9448c4a8997cfba847f7882025-02-03T01:23:04ZengWileyCase Reports in Genetics2090-65442090-65522015-01-01201510.1155/2015/943905943905Severe Psychomotor Delay in a Severe Presentation of Cat-Eye SyndromeGuillaume Jedraszak0Aline Receveur1Joris Andrieux2Michèle Mathieu-Dramard3Henri Copin4Gilles Morin5Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, FranceLaboratoire de Cytogénétique et Biologie de la Reproduction, CECOS de Picardie, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, FranceLaboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Régional Universitaire de Lille, 59037 Lille Cedex, FranceUnité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, FranceLaboratoire de Cytogénétique et Biologie de la Reproduction, CECOS de Picardie, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, FranceUnité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens-Picardie, 80054 Amiens Cedex, FranceCat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.http://dx.doi.org/10.1155/2015/943905 |
| spellingShingle | Guillaume Jedraszak Aline Receveur Joris Andrieux Michèle Mathieu-Dramard Henri Copin Gilles Morin Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome Case Reports in Genetics |
| title | Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome |
| title_full | Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome |
| title_fullStr | Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome |
| title_full_unstemmed | Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome |
| title_short | Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome |
| title_sort | severe psychomotor delay in a severe presentation of cat eye syndrome |
| url | http://dx.doi.org/10.1155/2015/943905 |
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