A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)
The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in...
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2016-08-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1643 |
| _version_ | 1797702232341217280 |
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| author | Grigory S. Vasilyev Tatiana I. Meshcheryakova Elena N. Lukash Svetlana S. Zhylina Ilya V. Kanivets Alexander N. Petrin |
| author_facet | Grigory S. Vasilyev Tatiana I. Meshcheryakova Elena N. Lukash Svetlana S. Zhylina Ilya V. Kanivets Alexander N. Petrin |
| author_sort | Grigory S. Vasilyev |
| collection | DOAJ |
| description | The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in the father being the carrier. Clinical manifestations in the sick child include delay in physical, psychomotor and speech development, epilepsy, skeletal abnormalities, cleft palate, and multiple development microanomalies. The chromosomal microarray analysis was applied for a precise cytogenetic diagnosis. |
| first_indexed | 2024-03-12T04:47:12Z |
| format | Article |
| id | doaj.art-af6ea2c832f54742856c8f64ef950a01 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T04:47:12Z |
| publishDate | 2016-08-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-af6ea2c832f54742856c8f64ef950a012023-09-03T09:26:58Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-08-0115330130610.15690/vsp.v15i3.15681605A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)Grigory S. Vasilyev0Tatiana I. Meshcheryakova1Elena N. Lukash2Svetlana S. Zhylina3Ilya V. Kanivets4Alexander N. Petrin5Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская ФедерацияНаучно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого, Москва, Российская ФедерацияНаучно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого, Москва, Российская ФедерацияРоссийский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская Федерация Научно-практический центр специализированной медицинской помощи детям им. В.Ф. Войно-Ясенецкого, Москва, Российская ФедерацияМедико-генетический научный центр, Москва, Российская ФедерацияМосковский государственный медико-стоматологический университет им. А.И. Евдокимова, Москва, Российская ФедерацияThe article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in the father being the carrier. Clinical manifestations in the sick child include delay in physical, psychomotor and speech development, epilepsy, skeletal abnormalities, cleft palate, and multiple development microanomalies. The chromosomal microarray analysis was applied for a precise cytogenetic diagnosis.https://vsp.spr-journal.ru/jour/article/view/1643врожденные пороки развитиязадержка развитияхромосомные аномалиихромосомный микроматричный анализ. |
| spellingShingle | Grigory S. Vasilyev Tatiana I. Meshcheryakova Elena N. Lukash Svetlana S. Zhylina Ilya V. Kanivets Alexander N. Petrin A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) Вопросы современной педиатрии врожденные пороки развития задержка развития хромосомные аномалии хромосомный микроматричный анализ. |
| title | A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) |
| title_full | A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) |
| title_fullStr | A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) |
| title_full_unstemmed | A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) |
| title_short | A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3) |
| title_sort | clinical and molecular description of a rare case of chromosomal abnormality partial trisomy 14q11 2 q21 1 and partial monosomy 21q11 2 q21 3 |
| topic | врожденные пороки развития задержка развития хромосомные аномалии хромосомный микроматричный анализ. |
| url | https://vsp.spr-journal.ru/jour/article/view/1643 |
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