• Journal of Dental Anesthesia and Pain Medicine
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• v.17 no.2
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• pp.139-141
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• 2017

Chromosome 6p duplication is very rare and clinically characterized by short stature, mental retardation, and congenital heart diseases. Patients with mental retardation may present with poor oral health conditions. Dental treatment may need to be performed under general anesthesia in such patients. Our case report deals with induction of general anesthesia to a patient with chromosome 6p duplication, for dental treatment. The selection of a nasotracheal tube of an appropriate size, because of the patient's short stature, was especially important for airway management. In the present case, the patient with chromosome 6p duplication was intubated with a nasotracheal tube, which was not age-matched but adapted to the height and physique of the patient.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.102-107
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• 2020

We report the case of an infant with a 4q35.1 deletion with 10p duplication. This mutation is rarely reported in the literature and has been found to have variable clinical findings, often including developmental delay. In this case, the condition was detected by chromosomal microarray analysis after initial manifestation of a feeding problem and developmental delay. Minor dysmorphic features with abnormal neurological examination led to further evaluation. The father's chromosome complement was 46, XY, t(4;10)(q35;p12.2). Parental balanced translocation can go unrecognized, because affected individuals are often phenotypically healthy until they have fertility issues such as recurrent miscarriages or children with severe congenital disorders. Genetic diagnoses help to establish a clear family genetic background that permits the development of clear treatment strategies. Prenatal counseling can also help to understand the possible risks associated with pregnancy or future child planning.

• Journal of Cerebrovascular and Endovascular Neurosurgery
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• v.26 no.3
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• pp.298-303
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• 2024

Partial trisomy of the long arm of chromosome 17 (17q) is a rare but clinically recognized syndrome that involves facial dysmorphisms, skeletal abnormalities, and global developmental delay, as well as various reports of cardiovascular, renal, and central nervous system abnormalities. This report presents a novel neuroradiologic finding of diffuse enlarged, tortuous cortical veins with physiological antegrade flow in a child with a microduplication of the distal end of 17q. To our knowledge, this finding has not been described previously. Although the exact cause for the cortical vascular anomaly is currently unknown, this duplicated region contains genes of interest for future studies that focus on normal and abnormal angiogenesis.

• Journal of Genetic Medicine
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• v.16 no.2
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

• Animal cells and systems
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• v.12 no.4
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• pp.261-267
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• 2008

The human chromosomes 2, 7, 12 and 17 show genomic homology around Hox gene clusters, is taken as evidence that these paralogous gene families might have arisen from a ancestral chromosomal segment through genome duplication events. We have examined protein data from vertebrate and invertebrate genomes to analyze the phylogenetic history of multi-gene families with three or more of their representatives linked to human Hox clusters. Topology comparison based upon statistical significance and information of chromosome location for these genes examined have revealed many of linked genes coduplicated with Hox gene clusters. Most linked genes to Hox clusters share the same evolutionary history and are duplicated in concert with each other. We conclude that gene families linked to Hox clusters may be suggestion of ancient genome duplications.

• Molecules and Cells
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• v.23 no.1
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• pp.39-48
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• 2007

Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are frequent forms of genetically heterogeneous peripheral neuropathies. Reciprocal unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-p12 is a major cause of CMT type 1A (CMT1A) and HNPP. The importance of a sensitive and rapid method for identifying the CMT1A duplication and HNPP deletion is being emphasized. In the present study, we established a molecular diagnostic method for the CMT1A duplication and HNPP deletion based on hexaplex PCR of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S918, D17S4A and D17S2230). The method is highly time-, cost- and sample-saving because the six markers are amplified by a single PCR reaction and resolved with a single capillary in 3 h. Several statistical and forensic estimates indicated that most of these markers are likely to be useful for diagnosing the peripheral neuropathies. Reproducibility, as determined by concordance between independent tests, was estimated to be 100%. The likelihood that genotypes of all six markers are homozygous in randomly selected individuals was calculated to be $1.6{\times}10^{-4}$, which indicates that the statistical error rate for this diagnosis of HNPP deletion is only 0.016%.

• Molecules and Cells
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• v.39 no.5
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• pp.382-388
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• 2016

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likelypathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.