| A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2) |
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Sun Ju Lee, Jin Hwa Jeong, Sung Min Cho |
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Department of Pediatrics, Collage of Medicine, Dongguk University Pohang Hospital, Pohang Korea |
| 염색체 5번의 Pericentric Inversion(p15.1q11.2) 1례 |
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이선주, 정진화, 조성민 |
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동국대학교 의과대학 소아과학교실 |
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| Abstract |
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Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the cri-du- chat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and 5th fingers overlapping the index and 3rd fingers, simian crease, the dorsiflexed 2nd toes, and poor sucking power, but without other characteristics of Edwards syndrome or cri-du-chat syndrome. Chromosome studies from peripheral blood showed a 46, XY,inv(5)(p15.1q11.2) karyotype. We report the first case of pericentric inversion of chromosome 5 in Korea with a review of literature. |
| Key Words:
Pericentric inversion, Chromosome 5 |
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