A Dysmorphic Child with a Pericentric Inversion of Chromosome 8
An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of ge...
שמור ב:
| Main Authors: | , , , , |
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| פורמט: | ספר |
| יצא לאור: |
Hindawi Limited,
2012-01-01T00:00:00Z.
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| גישה מקוונת: | Connect to this object online. |
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הוספת תג
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| סיכום: | An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype. |
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| תאור פריט: | 2090-6803 2090-6811 10.1155/2012/813963 |