• Journal of Genetic Medicine
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• v.19 no.2
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• Journal of Dental Anesthesia and Pain Medicine
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• v.20 no.1
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• pp.49-53
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• 2020

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a high caries index. However, treating such patients is not an easy task, because of the difficulty in communication. General anesthesia may be a useful option in adult patients with CdCS and intellectual disability. General anesthesia should be administered very carefully, owing to the presence of comorbid diseases, which may need airway management. Infants with CdCS need general anesthesia if they have a concomitant cardiac anomaly. Intubation is reportedly difficult for such patients was, owing to the structural and functional abnormalities in the larynx and vocal cords. The purpose of this study was to report a case of difficult intubation while inducing general anesthesia in a patient with CdCS during dental treatment, due to a narrow larynx and trachea.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.2
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• pp.38-40
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• 2016

Prader-Willi syndrome (PWS) is a rare genetic disorder often caused by a deletion of the chromosome 15q11-q13 region inherited from the father or by maternal disomy 15. Growth hormone deficiency with short stature, hypogonadism, cognitive and behavioral problems, analgesia, decreased gastric motility and decreased ability to vomit with hyperphagia are common in PWS leading to severe obesity in early childhood, if not controlled. The goal of this study is to investigate the effects of recombinant human GH (rhGH, henceforth designated GH) on the gene expression related to cognitive function in the brain of PWS mouse model (Snord116del). GH restored the mRNA expression level of several genes in the cerebellum. These data suggest the effect of GH on the expression of cognitive function related genes in cerebellum may provide a mechanism for the GH-induced brain function in PWS patients.

• Journal of Genetic Medicine
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• v.1 no.1
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• pp.27-31
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• 1997

Steroid 21 hydroxylase deficiency is a major cause of congenital adrenal hyperplasia (CAH) and is caused by genetic impairment of the gene (CYP21B). In the human genome, CYP21B is located within the MHC class III region on the short arm of chromosome 6. Most of the genes in this region are highly polymorphic and crowded. Also the CYP21B gene is accompanied by its pseudogene (CYP21A) and tandemly arranged with two genes of fourth component of complement. This highly complex gene cluster in this area may predispose genetic instability of CYP21, i.e. mutations. In this study, tried to investigate the frequency of duplication and deletion of CYP21 and patterns of the genetic alterations of these genes.We also compared the genetic alteration in normal subjects with those of the CAH patients. The results showed that 15% of the normal korean population have duplication or deletion of CYP21. There was one normal subject with heterozygous deletion of CYP21B. Of the 5 CAH patients examined, 2 were found to show abnormal patterns. One was a large-scale gene conversion and the other a gene conversion associated with deletion involving both CYP21B and C4 locus II gene. Through this study, we carne to the conclusion that the duplication or even deletion of CYP21 and C4 might be quite a common event in the Korean population and these rearrangements must be regarded as polymorphisms. It could contribute to a high incidencs of CAH by providing a genetic pool of instable CYP21.

• Journal of The Korean Dental Society of Anesthesiology
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• v.13 no.1
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• pp.13-18
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• 2013

CATCH 22 syndrome is a one of the most common chromosome microdeletion syndrome with multiple organ anomalies in humans, with an incidence of approximately 1:4,000 to 1:5,000 live births. It is caused by a microdeletion of 1.5 to 3.0 megabases on the long arm of chromosome 22. The phenotypic spectrum of this disorder is wide and various. A 19-year-old patient who showed delayed growth and development (Height; 110 cm, Weight; 18 kg) was referred to our department for the treatment of dental cavities. She was diagnosed as CATCH 22 syndrome in 2004. Physical examination revealed hypertelorism, a short philtrum, thick reflected lips and a small mouth. She underwent cleft palate surgery at 1 year of age and heart valve surgery due to the cardiovascular abnormality at 13 years of age. Convulsive seizures had persisted until 5 years ago but are well controlled at present. Oral examination showed poor oral hygiene, crowding, prolonged retention on #65, 75 and dental cavities on #16, 21, 65, 26, 36, and 46. Cavity treatment and prophylaxis were performed under general anesthesia. Also continuous follow-up checks have been carrying out with the periodic prophylaxis and dental home education. Problems with numerous cavities and gingivitis which can lead to specific risks are common for CATCH 22 syndrome patients. It is therefore of great importance that these patients are referred to foremost physician and dental specialist for the oral care. In addition, preventive treatment targeting the risk of dental cavities and gingivitis is especially important and, as the syndrome involves many different medical problems, the dental treatment should be carried out in collaboration with the patient's physician.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.4 no.1
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• pp.12-16
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• 2008

Williams syndrome is a rare genetic disorder with a frequency of one per 20,000~50,000 live births. It is caused by a deletion of one elastin allele located within chromosome subunit 7q11.23(long arm). This syndrome is frequently accompanied by disorders such as congenital heart disease, facial anomalies, mental retardation, and so on. The characteristic facial appearance includes full lips, rounded cheeks, broad forehead, periorbital fullness, flattened bridge of nose, small nose with anteverted nostril, long filtrum and low-set ears. In oral features, hypodontia, high prevalence of dental caries, microdontia, enamel hypoplasia, delayed eruption, and malocclusions have been found. Most adult patients with Williams syndrome lack social adaptability and lead seclusive lives, however, young patients are rather very friendly and talkative, and seem smarter than their actual intellectual quotients. They also tend to favor staying with grown-ups rather than mixing with their peers, and tend to present problematic temper tantrum during dental treatment.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.163-167
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• 2014

DiGeorge syndrome is a disorder caused by microdeletion in chromosome 22q11.2 with various abnormalities including cardiac anomaly, facial dysmorphism, thymic and parathyroid hypoplasia, cleft palate and immune dysfunction. The frequency of hypocalcemia caused by hypoparathyroidism is known to be approximately 60% of DiGeorge syndrome. It is known that the disorder mostly occurs in the neonatal period and the symptoms are improved afterwards. Herein we report a case of DiGeorge syndrome only accompanied by hypocalcemia caused by hypoparathyroidism without other abnormalities. She was first diagnosed only at the age of 22 with basal ganglia calcification that had been discovered in brain CT (Computed tomography).

• Journal of The Korean Dental Society of Anesthesiology
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• v.11 no.1
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• pp.51-54
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• 2011

Wolff-Hirschorn syndrome is a condition that is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. A 9-year-old girl was brought to the clinic with a chief complaint of dental examination. The child was diagnosed as WHS at Samsung medical center. The child was under Sodium valproate, Atrovastatin medication for epilepsy, hyperlipidemia and had a history of heart surgery. So prophylactic antibiotics were recommended. The child was mentally retarded and had seizure so it was difficult to manage her behavior effectively. Thus dental treatment was carried out under general anesthesia. For prompt sedation induction we used 8% sevoflurane shortly. This report presents the case of a 9-year-old girl with WHS, who has received treatment for extensive caries under general anesthesia.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.133-138
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• 1997

Prader Willi Syndrome(PWS) was first recognized and reported by Prader-Willi. The etiology of the syndrome is not fully understood, but 50-70% of the patients show small deletion in chromosome 15. Manifested symtoms vary according to developmental age. In early life, hypotonia, areflexia, feeding difficulties, hypothermia, microgenitalia, hypoplastic scrotum, cryptochordism were observed. But in several years, hypotonia disappears, and polyphagia, decreased satiety, psychomotor retardation, obesity, hypogonadism and short stature become main problems. Behavioural problems including temper and aggressive outbursts, stealing food, hoarding food, and self excoriating skin picking, trichotillomania are more prominent during adolescence and young adulthood. Also, irritable, depressed mood are described. Lots of psychological and behavioural problems explain the reason why psychiatrists have managed and reported this syndrome. However, there has been no official report of PWS in our country. So authors report the clinical characteristics and issues in management of a patient with PWS.