XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome.
Am J Med Genet
; 70(4): 413-4, 1997 Jun 27.
Article
in En
| MEDLINE
| ID: mdl-9182784
ABSTRACT
We report on a 19-week-old fetus with a 46,XX karyotype, normal female external genitalia, complete gonadal agenesis, large encephalocele, spina bifida, and omphalocele. We postulate a new syndrome. Hitherto no consistent malformation patterns have been observed in agonadism patients. True agonadism, including even the unusual finding of an XX gonosomal status, is obviously not as rare as suggested.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
X Chromosome
/
Abnormalities, Multiple
/
Fetus
/
Gonadal Dysgenesis
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
En
Journal:
Am J Med Genet
Year:
1997
Document type:
Article
Affiliation country:
Germany