Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32a
| العنوان: | Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32a |
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| المؤلفون: | Elizabeth T. Lau, Tiong Yang Tan, Brian H.Y. Chung, Mary Hoi Yin Tang, Simon C. K. Ding, Noel Wan Man Shek |
| المصدر: | Case Reports in Perinatal Medicine. 2:39-45 |
| بيانات النشر: | Walter de Gruyter GmbH, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Embryology, Fetus, Pathology, medicine.medical_specialty, business.industry, Urinary system, Central nervous system, Obstetrics and Gynecology, Karyotype, Locus (genetics), Prenatal diagnosis, medicine.disease, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, medicine, Agenesis of the corpus callosum, business, Comparative genomic hybridization |
| الوصف: | We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data. |
| تدمد: | 2192-8959 2192-8932 |
| DOI: | 10.1515/crpm-2012-0032 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::bae73b8adc174e459d0ced6ba00dc96b https://doi.org/10.1515/crpm-2012-0032 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........bae73b8adc174e459d0ced6ba00dc96b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 21928959 21928932 |
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| DOI: | 10.1515/crpm-2012-0032 |