A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita
Neonatal Medicine
; : 88-91, 2017.
Article
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| WPRIM
| ID: wpr-9699
Responsable en Bibliothèque :
WPRO
ABSTRACT
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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Phénotype
/
Bras
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Arthrogrypose
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Chromosomes humains de la paire 9
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Aberrations des chromosomes
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Contracture
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Craniosynostoses
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Membres
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Hernie inguinale
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Articulations
Limites du sujet:
Humans
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Infant
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Male
langue:
En
Texte intégral:
Neonatal Medicine
Année:
2017
Type:
Article