دورية أكاديمية
Family case of Potocki-Lupski syndrome.
| العنوان: | Family case of Potocki-Lupski syndrome. |
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| المؤلفون: | Kolbasin LN; Budgetary Institution of KHMAO-Yugra Surgut Regional Clinical Center for Maternity and Childhood Protection, Medical Genetic Counseling Service, Surgut, Russian Federation., Dubrovskaya TA; Budgetary Institution of KHMAO-Yugra 'Kondinsky Regional Hospital', Mezhdurechensky Town, Russian Federation., Salnikova GB; Budgetary Institution of KHMAO-Yugra 'Kondinsky Regional Hospital', Mezhdurechensky Town, Russian Federation., Solovieva EN; Budgetary Institution of KHMAO-Yugra 'Kondinsky Regional Hospital', Mezhdurechensky Town, Russian Federation., Donnikov MY; Budgetary Institution of KHMAO-Yugra Surgut Regional Clinical Center for Maternity and Childhood Protection, Medical Genetic Counseling Service, Surgut, Russian Federation.; Budgetary Institution of Highest Education of KHMAO-Yugra 'Surgut State University', Surgut, Russian Federation., Illarionov RA; D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034, St. Petersburg, Russian Federation. r.a.illarionov@gmail.com., Glotov AS; D.O. Ott Research Institute of Obstetrics, Gynaecology, and Reproductology, 199034, St. Petersburg, Russian Federation., Kovalenko LV; Budgetary Institution of Highest Education of KHMAO-Yugra 'Surgut State University', Surgut, Russian Federation., Belotserkovtseva LD; Budgetary Institution of KHMAO-Yugra Surgut Regional Clinical Center for Maternity and Childhood Protection, Medical Genetic Counseling Service, Surgut, Russian Federation. |
| المصدر: | Molecular cytogenetics [Mol Cytogenet] 2024 Mar 22; Vol. 17 (1), pp. 6. Date of Electronic Publication: 2024 Mar 22. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: London : BioMed Central |
| مستخلص: | Background: Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide variability of clinical expression, which can make its clinical and molecular diagnosis challenging. Case Presentation: We report here a family (mother and her two children) diagnosed with PTLS. When examining children, neurological and psychological (neuropsychiatric) manifestations (speech delay, mild mental retardation), motor disorders, craniofacial dysmorphism (microcephaly, dolichocephaly, triangular face, wide bulging forehead, long chin, antimongoloid slant, "elfin" ears) were revealed. The suspected clinical diagnosis was confirmed by MLPA and CMA molecular genetic testing which revealed the presence of a segmental aneusomy; microduplication in the 17p11.2 region. Conclusions: Children with PTLS can have a clinically recognizable and specific phenotype: craniofacial dysmorphism, motor and neurological manifestations, which may implicate a possible genetic disease to the attending physician. Moreover, each child with this syndrome is unique and may have a different clinical picture. The management of such patients requires a multidisciplinary team approach, including medical genetic counseling. (© 2024. The Author(s).) |
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| معلومات مُعتمدة: | 075-15-2021-1058 Ministry of Science and Higher Education of the Russian Federation |
| فهرسة مساهمة: | Keywords: 17p11.2 microduplication; Family case study; Potocki-Lupski syndrome (PTLS) |
| تواريخ الأحداث: | Date Created: 20240323 Latest Revision: 20240325 |
| رمز التحديث: | 20240325 |
| مُعرف محوري في PubMed: | PMC10960457 |
| DOI: | 10.1186/s13039-024-00673-5 |
| PMID: | 38519962 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1755-8166 |
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| DOI: | 10.1186/s13039-024-00673-5 |