• 제목/요약/키워드: Microdeletion

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전두봉합유합증(Metopic synostosis)을 동반한 DiGeorge 증후군: 증례보고 (A Case of DiGeorge Syndrome with Metopic Synostosis)

  • 김수민;박선희;강낙헌;변준희
    • Archives of Plastic Surgery
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    • 제38권1호
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    • pp.77-80
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    • 2011
  • Purpose: We report a patient with DiGeorge syndrome who was later diagnosed as mild metopic synostosis and received anterior 2/3 calvarial remodeling. Methods: A 16-month-old boy, who underwent palatoplasty for cleft palate at Chungnam National University Hospital when he was 12 months old of age, visited St. Mary's Hospital for known DiGeorge syndrome with craniosynostosis. He had growth retardation and was also diagnosed with hydronephrosis and thymic agenesis. His chromosomal study showed microdeletion of 22q11.2. On physical examination, there were parieto-occipital protrusion and bifrontotemporal narrowing. The facial bone computed tomography showed premature closure of metopic suture, orbital harlequin sign and decreased anterior cranial volume. The interorbital distance was decreased (17 mm) and the cephalic index was 93%. Results: After the correction of metopic synostosis by anterior 2/3 calvarial remodeling, the anterior cranial volume expanded with increased interorbital distance and decreased cephalic index. Fever and pancytopenia were noted at 1 month after the operation, and he was diagnosed as hemophagocytic lymphohistiocytosis by bone marrow study. He however, recovered after pediatric treatment. There was no other complication during the 12 month follow up period. Conclusion: This case presents with a rare combination of DiGeorge syndrome and metopic synostosis. When a child is diagnosed with DiGeorge syndrome soon after the birth, clinicians should keep in mind the possibility of an accompanying craniosynostosis. Other possible comorbidities should also be evaluated before the correction of craniosynostosis in patients as DiGeorge syndrome. In addition, postoperative management requires a thorough follow up by a multidisciplinary team of plastic surgeons, neurosurgeons, ophthalmologists and pediatricians.

Genomic Alteration of Bisphenol A Treatment in the Testis of Mice

  • Kim, Seung-Jun;Park, Hye-Won;Youn, Jong-Pil;Ha, Jung-Mi;An, Yu-Ri;Lee, Chang-Hyeon;Oh, Moon-Ju;Oh, Jung-Hwa;Yoon, Seok-Joo;Hwang, Seung-Yong
    • Molecular & Cellular Toxicology
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    • 제5권3호
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    • pp.216-221
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    • 2009
  • Bisphenol A (BPA) is commonly used in the production of pharmaceutical, industrial, and housing epoxy, as well as polycarbonate plastics. Owing to its extensive use, BPA can contaminate the environment either directly or through derivatives of these products. BPA has been classified as an endocrine disruptor chemicals (EDCs), and the primary toxicity of these EDCs in males involves the induction of reproductive system abnormality. First, in order to evaluate the direct effects on the Y chromosome associated with reproduction, we evaluated Y chromosome abnormalities using a Y chromosome microdeletion detection kit. However, we detected no Yq abnormality as the result of BPA exposure. Secondly, we performed high-density oligonucleotide array-based comparative genome hybridization (CGH) to assess genomic alteration as a component of our toxicity assessment. The results of our data analysis revealed some changes in copy number. Seven observed features were gains or losses in chromosomal DNA (P-value<1.0e-5, average log2 ratio>0.2). Interestingly, 21 probes of chr7:7312289-10272836 (qA1-qA2 in cytoband) were a commonly observed amplification (P-value 3.69e-10). Another region, chr14:4551029-10397399, was also commonly amplified (P-value 2.93e-12, average of log2 ratios in segment>0.3786). These regions include many genes associated with pheromone response, transcription, and signal transduction using ArrayToKegg software. These results help us to understand the molecular mechanisms underlying the reproductive effects induced by BPA.

An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis

  • Kuroda, Shinnosuke;Usui, Kimitsugu;Mori, Kohei;Yasuda, Kengo;Asai, Takuo;Sanjo, Hiroyuki;Yakanaka, Hiroyuki;Takeshima, Teppei;Kawahara, Takashi;Hamanoue, Haruka;Kato, Yoshitake;Miyoshi, Yasuhide;Uemura, Hiroji;Iwasaki, Akira;Yumura, Yasushi
    • Clinical and Experimental Reproductive Medicine
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    • 제45권1호
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    • pp.48-51
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    • 2018
  • We report the case of a 46-year-old Chinese male patient who visited our clinic complaining of infertility. Semen analysis revealed azoospermia, and azoospermia factor c region partial deletion (b1/b3) was detected using Y chromosome microdeletion analysis. Testicular sperm extraction was performed after genetic counseling. The bilateral ductus deferens and a portion of the epididymis were absent, whereas the remaining epididymis was expanded. Motile intratesticular spermatozoa were successfully extracted from the seminiferous tubule. On histopathology, nearly complete spermatogenesis was confirmed in almost every seminiferous tubule. To our knowledge, this is the first case report of b1/b3 deletion with a congenital bilateral absence of the vas deferens and almost normal spermatogenesis.

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

  • Son, Yu Yun;Lee, Byeonghyeon;Suh, Chae-Ri;Nam, Hyo-Kyoung;Lee, Jung Hwa;Hong, Young Sook;Lee, Joo Won
    • Journal of Genetic Medicine
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    • 제12권1호
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    • pp.57-60
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    • 2015
  • CHARGE syndrome (coloboma, heart defects, atresia choanae, retarded growth and development, genital hypoplasia, and ear abnormalities) is characterized by multiple malformations and is diagnosed using distinct consensus criteria. Mutations in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Clinical features of CHARGE syndrome considerably overlap those of 22q11.2 deletion syndrome. Of these features, immunodeficiency and hypocalcemia are frequently reported in patients with 22q11.2 deletion syndrome but are rarely reported in patients with CHARGE syndrome. In this report, we have described the case of a patient with typical phenotypes of 22q11.2 deletion syndrome but without the proven chromosome microdeletion. Mutation analysis of CHD7 identified a pathogenic mutation (c.2238+1G>A) in this patient. To our knowledge, this is the first case of CHARGE syndrome with immunodeficiency and hypocalcemia in Korea. Our observations suggest that mutation analysis of CHD7 should be performed for patients showing the typical phenotypes of 22q11.2 deletion syndrome but lacking the proven chromosome microdeletion.

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

  • Lee, Ji Hyen;Kim, Hae Soon;Kim, Gu-Hwan;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • 제14권1호
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    • pp.18-22
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    • 2017
  • Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes of PHP 1b with different genetic mechanisms. One subtype is related to a maternally derived 3kb microdeletion involving STX 16 gene, and is inherited in an autosomal dominant mode. Familial autosomal dominant inheritance of PHP 1b is relatively rare. The other subtype is associated with more extensive loss of imprinting at the GNAS locus that affects at least one additional differential methylated (hypermethylation at neuroendocrine secretory protein and hypomethylation at antisense transcript and or extra-large stimulatory G protein region) without microdeletion of the STX 16 or AS gene. It can be sporadic due to an imprinting defect in the GNAS gene. In our case, an 8-year-old girl was referred for suspected PHP with no feature of Albright hereditary osteodystrophy. Blood test results revealed hypocalcemia and hyperphosphatemia. Elevated PTH was also checked. There was no family history of endocrine or developmental problem. Her intelligence was normal, but she had inferior sociability at that time. Based on above, we diagnosed a rare case of paternal uniparental disomy of the long arm of chromosome 20 as the cause of PHP 1b by microsatellite marker test of chromosome 20.

Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism

  • Hyun, Ju Kyung;Jung, Yu Jin
    • Journal of Genetic Medicine
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    • 제15권2호
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    • pp.115-119
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    • 2018
  • The 16p11.2 microdeletion has been reported in patients with developmental delays and intellectual disability. The distal 220- kb deletion in 16p11.2 is associated with developmental delay, autism spectrum disorder, epilepsy, and obesity at a young age. We have reported a case of distal 16p11.2 deletion syndrome in a preterm infant with unusual facial morphology and congenital heart disease. We suggest using chromosome microarray analysis to detect chromosomal abnormalities in newborns, especially preterm infants with unusual morphologies.

Temporomandibular joint ankylosis in Williams syndrome patient: an insight on the function of elastin in temporomandibular joint disorder

  • Woo, Jaeman;Lee, Choi-Ryang;Choi, Jin-Young
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • 제48권3호
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    • pp.178-181
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    • 2022
  • Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.

미세정자주입술로 임신이 된 남자태아의 Y 염색체 미세결실의 Vertical Transmission, de novo, 그리고 Expansion의 연구 (A Vertical Transmission, de novo, and Expansion of Y chromosome Microdeletion in Male Fetuses Pregnant after Intracytoplasmic Sperm Injection)

  • 김현아;이숙환;조성원;정혜진;손수민;강수진;배성근;김수희;윤태기
    • Clinical and Experimental Reproductive Medicine
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    • 제31권2호
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    • pp.105-110
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    • 2004
  • Objectives: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. Materials and Methods: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. Results: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. Conclusions: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.