Journal of Genetic Medicine

  • 제17권2호
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  • Pages.102-107
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  • 2020
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A newborn with developmental delay diagnosed with 4q35 deletion and 10p duplication

  • Kim, Beom Joon (Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Jang, Woori (Department of Laboratory Medicine, College of Medicine, Inha University Hospital) ;
  • Kim, Myungshin (Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Youn, YoungAh (Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • 투고 : 2020.10.14
  • 심사 : 2020.11.20
  • 발행 : 2020.12.31
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초록

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.

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참고문헌

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