• Clinical and Experimental Pediatrics
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• v.55 no.10
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• pp.393-396
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• 2012

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.78-88
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• 2016

Purpose: To identify the clinical characteristics of SRY-negative male patients and genes related to male sex reversal, we performed a retrospective study using cases of 46,XX testicular disorders of sex development with a review of the literature. Materials and Methods:SRY-negative cases of 46,XX testicular disorders of sex development referred for cytogenetic analysis from 1983 to 2013 were examined using clinical findings, seminal analyses, basal hormone profiles, conventional cytogenetic analysis and polymerase chain reaction. Results: Chromosome analysis of cultured peripheral blood cells of 8,386 individuals found 19 cases (0.23%) with 46,XX testicular disorders of sex development. The SRY gene was confirmed to be absent in three of these 19 cases (15.8%). Conclusion: We report three rare cases of SRY-negative 46,XX testicular disorders of sex development. Genes on autosomes and the X chromosome that may have a role in sex determination were deduced through a literature review. These genes, through differences in gene dosage variation, may have a role in sex reversal in the absence of SRY.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.24-30
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• 2021

Epigenetics deals with modifications in gene expression, without altering the underlying DNA sequence. Genomic imprinting is a complex epigenetic phenomenon that refers to parent-of-origin-specific gene expression. Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are congenital imprinting disorders with mirror opposite alterations at the genomic loci in 11p15.5 and opposite phenotypes. BWS and SRS are important imprinting disorders with the increase of knowledge of genetic and epigenetic mechanisms. Altered expression of the imprinted genes in 11p15.5, especially IGF2 and CDKN1C, affects fetal and postnatal growth. A wide range of imprinting defects at multiple loci, instead of a restricted locus, has been shown in some patients with either BWS or SRS. The development of new high-throughput assays will make it possible to allow accurate diagnosis, personalized therapy, and informative genetic counseling.

• 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 Pharmacopuncture
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• v.27 no.1
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• pp.38-46
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• 2024

Objectives: Genotoxicity is evaluated through a chromosomal aberration test using cultured mammalian cells to determine the toxicity of no-pain pharmacopuncture (NPP), which has recently been used to treat musculoskeletal pain disorders in Korean medical clinical practice. Methods: An initial test was performed to determine the dosage range of the NPP, followed by the main test. In this study, NPP doses of 10.0, 5.0, and 2.5%, and negative and positive controls were tested. An in vitro chromosome aberration test was performed using Chinese hamster lung cells under short-term treatment with or without metabolic activation and under continuous treatment without metabolic activation. Results: Compared with the saline negative control group, NPP did not significantly increase the frequency of chromosomal abnormalities in Chinese hamster lung cells, regardless of the presence or absence of metabolic activation. Additionally, the number of cells with structural chromosomal abnormalities was significantly higher in the positive control group than that in the negative control group that received saline. Conclusion: Based on the above results, the chromosomal abnormality-producing effect of NPP was determined to be negative under these test conditions.

• Animal cells and systems
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• v.10 no.2
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• pp.65-71
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• 2006

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited renal disorders in the world. Mutations in PKD1 located on chromosome 16p13.3 are responsible for 85% of all the ADPKD patients whereas mutations in PKD2 on chromosome 4q21-23 are responsible for the rest of the cases. Genetic heterogeneity and the problems of mutation detection in PKD1 suggest that linkage analysis is an important approach to study the genetics of ADPKD. To evaluate the availability of six (CA)n microsatellite markers for the linkage analysis of ADPKD in the Korean population, we examined the allele frequencies and heterozygosities of the markers. With the exception of KG8, five markers were highly informative, with PIC values over 0.5, but the PIC value of KG8 marker was less informative than other five markers because of the low number of alleles. Therefore, this study will be useful in linkage analysis for ADPKD families in the Korean population.

• Proceedings of the Korean Nuclear Society Conference
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• 2004.05a
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• pp.398-398
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• 2004

• Journal of The Korean Dental Society of Anesthesiology
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• v.7 no.1
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• pp.18-21
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• 2007

Pelizaeus-Merzbacher disease (PMD) can be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein gene on chromosome Xq22. PMD is one of a group of progressive, degenerative disorders of the cerebral white matter known as the leukodystrophies. Due to the progressive nature of the disorders and their devastating effects on the central nervous system, these children frequently require anesthesia during imaging procedures such as MRI or during various surgical procedures. Anesthetic concerns in theses cases include high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, airway complications related to poor pharyngeal muscle control and copious oral secretions, and mental retardation. We report a successful anesthetic management in a patient with PMD for dental procedures.