Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report.
Horm Res
; 60(3): 148-51, 2003.
Article
em En
| MEDLINE
| ID: mdl-12931043
ABSTRACT
OBJECTIVE:
We present a case of erroneous sex determination in a newborn twin girl (twin A) due to chimerism. CASE REPORT Amniocentesis and ultrasound examination had pointed towards male sex of both twins. At birth, twin A presented as a phenotypically normal female with 46,XY karyotype, and 46,XY gonadal dysgenesis was suspected. Twin B was a normal male.RESULTS:
In our department, further examinations of twin A included undetectable testosterone and inhibin-B and elevated FSH. Ultrasound suspected an infantile uterus, and sequencing of the SRY gene was normal. After gonadectomy, a 46,XX karyotype was demonstrated in both normal infantile ovaries and in the fibroblasts from a skin biopsy. Analysis of X-linked markers in DNA from blood lymphocytes in both twins was identical, consistent with 46,XY karyotypes.CONCLUSION:
Twin A is a 46,XX female with a chimeric 46,XY blood cell line due to intrauterine transfusion from her twin brother.
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Base de dados:
MEDLINE
Assunto principal:
Gêmeos
/
Transfusão de Sangue
/
Quimera
/
Processos de Determinação Sexual
/
Erros de Diagnóstico
/
Sangue Fetal
/
Disgenesia Gonadal
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Horm Res
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Dinamarca