Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability.
10.3760/cma.j.issn.1003-9406.2019.08.018
- Author:
Caiqin GUO
1
,
2
;
Junfeng WANG
;
Ye TANG
;
Hao SHI
;
Jun LIU
;
Li ZHAO
Author Information
1. Center of Prenatal Diagnosis, Wuxi Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Wuxi, Jiangsu 214002, China. our163@
2. com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Intellectual Disability;
Jacobsen Distal 11q Deletion Syndrome;
diagnosis;
Karyotyping;
Polymorphism, Single Nucleotide;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(8):826-288
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).
METHODS:The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.
RESULTS:G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.
CONCLUSION:Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.
