[Prenatal diagnosis of a case with Branchi-oto-renal syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(12): 1210-1212, 2019 Dec 10.
Article
in Zh
| MEDLINE
| ID: mdl-31813150
ABSTRACT
OBJECTIVE:
To carry out prenatal diagnosis for a women with Branchio-oto-renal syndrome by using chromosomal microarray analysis (CMA).METHODS:
Peripheral blood chromosomal karyotyping and CMA were used to analyze the gravida with an abnormal phenotype. Pathological copy number variants (CNVs) were validated in other members of the family members and her fetus.RESULTS:
The gravida and her daughter both had Branchio-oto-renal syndrome and a 8q13.3 microdeletion encompassing the EYA1 gene. The same microdeletion was also found in the fetus. No phenotypic or genotypic anomaly was found with other members of the family.CONCLUSION:
Mutation of the EYA1 gene probably underlies the Branchio-oto-renal syndrome in this family, which is consistent with an autosomal dominant inheritance.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Nuclear Proteins
/
Protein Tyrosine Phosphatases
/
Branchio-Oto-Renal Syndrome
/
Intracellular Signaling Peptides and Proteins
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2019
Type:
Article
Affiliation country:
China