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KMID : 1039920170240020088
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Neonatal Medicine
2017 Volume.24 No. 2 p.88 ~ p.91
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A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita
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Kim Eun-Jeong
Chung Sung-Hoon
Park Tae-Sung
Choi Yong-Sung
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Abstract
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Chromosome 9p syndrome is a rare chromosomal abnormality caused by a partial deletion in chromosome 9. It was first described in 1973 by Alfi et al., and has since been shown to have diverse clinical phenotypes. Here, we reported a case of a male infant with joint contracture of the extremities, dysmorphic face, inguinal hernia, and testicular cystic masses. Chromosomal analysis revealed a terminal deletion at the short arm of chromosome 9. The major clinical features of the 9p deletion syndrome are trigonocephaly, small palpebral fissures, a flat nasal bridge, and mental retardation. To the best of our knowledge, this is the first reported case of a patient with 9p24 deletion presenting with arthrogryposis multiplex congenita.
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KEYWORD
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Short arm deletion, Chromosome 9, Inguinal hernia, Arthrogryposis
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