1.Mosaic Ring Chromosome 6 in an Infant with Significant Patent Ductus Arteriosus and Multiple Congenital Anomalies.
Seung Jae LEE ; Dong Kyun HAN ; Hwa Jin CHO ; Young Kuk CHO ; Jae Sook MA
Journal of Korean Medical Science 2012;27(8):948-952
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
Abnormalities, Multiple/*diagnosis/genetics/radiography
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Aorta, Thoracic/radiography
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Aortic Valve/ultrasonography
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Chromosome Disorders/*diagnosis/genetics
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Chromosomes, Human, Pair 6/genetics
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Ductus Arteriosus, Patent/*diagnosis/genetics/radiography
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Humans
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Infant
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Karyotyping
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Male
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Ring Chromosomes
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Tomography, X-Ray Computed
2.The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses.
Young Bae SOHN ; Shin Young YIM ; Eun Hae CHO ; Ok Hwa KIM
Journal of Korean Medical Science 2015;30(2):214-217
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child
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Chromosome Deletion
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Chromosome Disorders/diagnosis/*genetics/radiography
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Chromosome Mapping
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Chromosomes, Human, Pair 11/genetics/radiography
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Craniofacial Abnormalities/genetics
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Developmental Disabilities/genetics
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Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography
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Humans
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Male
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Muscle Hypotonia/genetics
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Oligonucleotide Array Sequence Analysis
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Rare Diseases/*genetics
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Republic of Korea
3.The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses.
Young Bae SOHN ; Shin Young YIM ; Eun Hae CHO ; Ok Hwa KIM
Journal of Korean Medical Science 2015;30(2):214-217
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)x1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.
Child
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Chromosome Deletion
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Chromosome Disorders/diagnosis/*genetics/radiography
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Chromosome Mapping
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Chromosomes, Human, Pair 11/genetics/radiography
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Craniofacial Abnormalities/genetics
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Developmental Disabilities/genetics
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Exostoses, Multiple Hereditary/diagnosis/*genetics/radiography
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Humans
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Male
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Muscle Hypotonia/genetics
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Oligonucleotide Array Sequence Analysis
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Rare Diseases/*genetics
;
Republic of Korea
4.Ring chromosome 20 syndrome.
Chinese Journal of Pediatrics 2013;51(9):710-712
Anticonvulsants
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administration & dosage
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therapeutic use
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Brain
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diagnostic imaging
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physiopathology
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Child
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Child, Preschool
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Chromosome Deletion
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Chromosome Disorders
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diagnosis
;
genetics
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Chromosomes, Human, Pair 20
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genetics
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Electroencephalography
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Epilepsy
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diagnosis
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drug therapy
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genetics
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Epilepsy, Complex Partial
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diagnosis
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drug therapy
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genetics
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Humans
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Karyotyping
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Radiography
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Ring Chromosomes