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
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Arm
/
Arthrogryposis
/
Chromosomes, Human, Pair 9
/
Chromosome Aberrations
/
Contracture
/
Craniosynostoses
/
Extremities
/
Hernia, Inguinal
/
Joints
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Neonatal Medicine
Year:
2017
Type:
Article
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