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.
Artigo
em Inglês
| WPRIM
| ID: wpr-9699
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Braço
/
Artrogripose
/
Cromossomos Humanos Par 9
/
Aberrações Cromossômicas
/
Contratura
/
Craniossinostoses
/
Extremidades
/
Hérnia Inguinal
/
Articulações
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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