Partial Trisomy 13 (Patau Syndrome): An Autopsy Report
Korean Journal of Pathology
;
: 338-340, 2002.
Article
in English
| WPRIM
| ID: wpr-59278
ABSTRACT
Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features of Patau syndrome. He was terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal analysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13) dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother's karyotype was 46,XX, inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultrasonography showed fluid-nature content, which was occupying the entire intracranium, but preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosencephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and a single umbilical artery.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Autopsy
/
Trisomy
/
Brain Stem
/
Cerebellum
/
Anophthalmos
/
Holoprosencephaly
/
Ultrasonography
/
Gestational Age
/
Fathers
/
Single Umbilical Artery
Type of study:
Diagnostic study
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Korean Journal of Pathology
Year:
2002
Type:
Article
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