Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of Genetic Medicine
;
: 34-37, 2017.
Article
in English
| WPRIM
| ID: wpr-114915
ABSTRACT
5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Prenatal Diagnosis
/
Chromosomes, Human, Pair 5
/
Ultrasonography, Prenatal
/
Chromosome Aberrations
/
Ultrasonography
/
Cri-du-Chat Syndrome
/
Karyotyping
/
Aneuploidy
Type of study:
Diagnostic study
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2017
Type:
Article
Similar
MEDLINE
...
LILACS
LIS