Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound.
J Obstet Gynaecol Res
; 35(5): 978-82, 2009 Oct.
Article
en En
| MEDLINE
| ID: mdl-20149051
ABSTRACT
We report a rare case of mosaic ring chromosome 22 duplication/deletion in a fetus for whom karyotype analysis was required because of an abnormal finding in the maternal serum screening test and a choroid plexus cyst detected on prenatal ultrasound. Additional prenatal study of the amniotic fluid by fluorescence in situ hybridization was performed and the terminal 22q13.3 deletion was detected on ring chromosome. The final karyotype was 45,XX,-22[3]/46,XX,r(22)(p11q13.2)[63]/46,XX,idicr(22)(p11q13.2;p11q13.2)[2]dn.ishder(22)(N25+, ARSA-, ter-). The pegnancy was terminated. Cytogenetic analysis of the intracardiac blood also revealed ring 22 mosaicism with only one metaphase spread with idicr(22) as the unstable isodicentric rings are subsequently lost from most cells. We discuss the prenatal diagnosis of this rare condition.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Cromosomas en Anillo
/
Cromosomas Humanos Par 22
/
Plexo Coroideo
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Deleción Cromosómica
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Neoplasias del Plexo Coroideo
/
Quistes del Sistema Nervioso Central
/
Mosaicismo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
J Obstet Gynaecol Res
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Turquía