Prenatal diagnosis of interchromosomal insertion of Y chromosome heterochromatin in a family

Lee, Bom-Yi; Park, Ju-Yeon; Lee, Yeon-Woo; Oh, Ah-Rum; Lee, Shin-Young; Park, So-Yeon; Ryu, Hyun-Mee; Lee, Si-Won

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자료유형: 학술저널

저자정보: Lee, Bom-Yi (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Park, Ju-Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Lee, Yeon-Woo (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Oh, Ah-Rum (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Lee, Shin-Young (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Park, So-Yeon (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center) Lee, Si-Won (Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Dankook University College of Medicine)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제14권 제2호

발행연도: 2017.1

수록면: 62 - 66 (5page)

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Interchromosomal insertion of Y chromosome heterochromatin in an autosome was identified in a fetus and a family. A fetal karyotype was analyzed as 46,XX,dup(7)(?q22q21.1) in a referred amniocentesis at 16 weeks of gestation for advanced maternal age. In the familial karyotype analyses for identification of der(7), the mother, the first daughter and the maternal grandmother showed the same der(7) as the fetus's. CBG-banding was positive at 7q22 region of der(7) that indicated inserted material was originated from heterochromatin. The origin of heterochromatic insertion region in der(7) of the fetus and the mother was found in Yq12 region by fluorescent in situ hybridization with a DYZ1 probe. In the specific analysis of Y chromosomal heterochromatic region of ins(7;Y) of the mother, 15 sequence tagged sites from Yp11.3 region including SRY to Yq11.223 region was not detected. Final karyotypes of the mother, the first daughter and the maternal grandmother were reported as 46,XX,der(7)ins(7;Y)(q21.3;q12q12). All female carriers of ins(7;Y) in the family showed normal phenotype and the mother and the maternal grandmother were fertile. A healthy girl was born at term. We report a rare case of familial interchromosomal insertion of Y chromosome heterochromatin detected only in female family members with normal phenotype that was diagnosed prenatally.

#Insertion #Y chromosome #Heterochromatin #Prenatal diagnosis

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