Prenatal diagnosis and follow-up of a case with Lowe syndrome caused by interstitial deletion of Xq25-26.
- Author:
Xiangyu ZHU
1
;
Jie LI
;
Tong RU
;
Ruifang ZHU
;
Chenyan DAI
;
Wanjun WANG
;
Yali HU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, X; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; Infant; Male; Microarray Analysis; Oculocerebrorenal Syndrome; diagnosis; embryology; genetics; Phosphoric Monoester Hydrolases; genetics; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
- From: Chinese Journal of Medical Genetics 2017;34(2):236-239
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo report on a sporadic case of Lowe syndrome diagnosed prenatally with ultrasound examination and genetic testing.
METHODSDetailed sonographic fetal screening was performed by an experienced sonographer at 32 weeks of gestation. Fetal cranial magnetic resonance imaging (MRI) was applied to detect potential brain abnormality. Chromosomal microarray analysis (CMA) was conducted on amniotic fluid sample from the fetus and peripheral blood sample from the mother.
RESULTSCongenital cataract and enlarged posterior fossa were detected by fetal ultrasound screening. Fetal cranial MRI found hypoplasia of the gyrus. CMA revealed that the fetus has carried a 633 kb deletion at Xq25-26.1 which encompassed the OCRL gene. The mother was a carrier of the same deletion. Clinical examination after birth confirmed that the neonate was affected with Lowe syndrome in addition with an atrial septal defect.
CONCLUSIONPrenatal diagnosis of Lowe syndrome without a family history largely depends on fetal imaging. Should cataract be found by ultrasound screening, fetal MRI may be considered to rule out central nervous system anomalies. CMA assay should also be considered to facilitate the diagnosis.
