| 제목 |
A de novo case of 6q25.3q27 deletion with malformations of cortical development |
| 소속 |
, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Department of Rehabilitation Medicine1 |
| 저자 |
Jaewon Kim1*, Dae-Hyun Jang1†, Dong-Woo Lee1 |
Introduction: Malformations of cortical development compose a diverse range of disorders that are common causes of neurodevelopmental delay. As the advanced imaging and genetic technologies, the underlying molecular causes of malformations of cortical development have been recently elucidated. We here report a case with malformations of cortical development and 6q25.3q27 deletion.
Case: A 31-month-old girl was referred in the outpatient rehabilitation clinic because of microcephaly and delayed development. The patient had been born at 37 weeks of gestation by caesarean section due to lack of progressive cervical dilation. The prenatal and perinatal course was non-specific. There was no family history of delayed development or other known hereditary diseases. The birth weight was 2540g (5th percentile). On the examination, microcephaly with head circumference of 42.0cm (<1st percentile) was noted. The weight was 9.1kg (<1st percentile) and the length 68.0cm (6th percentile). On the developmental evaluation, she showed receptive-expressive language delay (4th percentile) and fine motor and gross motor delay (2nd percentile). Brain MRI test was performed and revealed that broad pachygyria on bilateral parietal and temporal lobes. Chromosomal karyotype test was normal, however array comparative genomic hybridization (CGH) test revealed segment deletion of 5.2Mb within the chromosome 6 (arr[hg19]6q25.3q27(159456425_164695228)). Array CGH analysis of both parents confirmed the de novo origin of the deletion. Interstitial deletions of the long arm of chromosome 6 involving the 6q25.3q27 region are rare, and most of these cases have not been assessed at the molecular level; therefore, the genotype–phenotype correlation has not been clearly defined. Malformations of cortical development would be important phenotype of the patient with the interstitial deletion of 6q25.3q27.
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Brain MRI: T2 weighed axial and coronal section showed broad pachygyria on bilateral parietal and temporal lobes.
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