Prenatal diagnosis of agenesis of the corpus callosum and cerebellar vermian hypoplasia associated with a microdeletion on chromosome 1p32a
| Autor: | Elizabeth T. Lau, Tiong Yang Tan, Brian H.Y. Chung, Mary Hoi Yin Tang, Simon C. K. Ding, Noel Wan Man Shek |
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| Rok vydání: | 2013 |
| Předmět: |
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 |
| Zdroj: | Case Reports in Perinatal Medicine. 2:39-45 |
| ISSN: | 2192-8959 2192-8932 |
| DOI: | 10.1515/crpm-2012-0032 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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