A Case of 13q- Syndrome with Arthrogryposis Multiflex Congenita
Journal of the Korean Society of Neonatology
;
: 103-107, 2003.
Article
in Korean
| WPRIM
| ID: wpr-27186
ABSTRACT
13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Anus, Imperforate
/
Arthrogryposis
/
Retinoblastoma
/
Scrotum
/
Chromosomes, Human, Pair 13
/
Coloboma
/
Ear
/
Heart
/
Kidney
/
Metaphase
Limits:
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2003
Type:
Article
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