Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review.
Taiwan J Obstet Gynecol
; 48(3): 292-5, 2009 Sep.
Article
en En
| MEDLINE
| ID: mdl-19797023
ABSTRACT
OBJECTIVE:
Prenatal diagnosis of mos45,X/46,X,+mar is difficult in genetic counseling. Patients with the presence of a Y-derived marker may manifest male or female external genitalia. Here, we report a fetus with phenotypically male external genitalia of mos45,X/46,X,+mar. In addition, the cases with prenatally detected mos45,X/ 46,X,del(Y)(q11.2) and normal male external genitalia are reviewed. CASE REPORT A 30-year-old, primigravid woman was referred for amniocentesis because of an abnormal Down syndrome screening result at 20 weeks' gestation. Cytogenetic analysis showed mos45,X/46,X,+mar without a normal Y chromosome. Prenatal ultrasound detected symmetric intrauterine growth restriction and normal male external genitalia. After termination of the pregnancy, a phenotypically normal male fetus was delivered smoothly without apparent structural defects. Based on conventional G-banded analysis, the marker chromosome appeared as a Y chromosome that originated with a deleted Yq, designated as del(Y)(q11.2).CONCLUSION:
Based on a literature review, the addition of fluorescence in situ hybridization and molecular analysis to the conventional cytogenetic techniques can provide more accurate identification of a Y chromosome aberration in the prenatal detection of mos45,X/46,X,+mar, thus allowing more appropriate genetic counseling for the family.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Aberraciones Cromosómicas Sexuales
/
Marcadores Genéticos
/
Hibridación Fluorescente in Situ
/
Genitales Masculinos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Taiwán