Prenatal detection of chromosome 7q deletion with duplication: A case report and literature review.
Medicine (Baltimore)
; 103(23): e38461, 2024 Jun 07.
Article
in En
| MEDLINE
| ID: mdl-38847723
ABSTRACT
RATIONALE With advances in prenatal diagnostic techniques, chromosomal microdeletions and microduplications have become the focus of prenatal diagnosis. 7q partial monosomy or trisomy due to a deletion or duplication of the 7q end is relatively rare and usually originates from parents carrying a balanced translocation. PATIENT CONCERNS Noninvasive prenatal screening (NIPT) showed a fetus with partial deletion and duplication of chromosome 7q. It was not possible to determine whether the fetus was normal. DIAGNOSES Conventional chromosome G-banding and chromosome microarray analysis (CMA) were performed on fetal amniotic fluid samples and parental peripheral blood samples. INTERVENTIONS:
The pregnant women were given detailed genetic counseling by clinicians.OUTCOMES:
The fetal karyotype was 46, XY on conventional G-banding analysis. The CMA test results showed a deletion of approximately 7.8 Mb in the 7q36.1q36.3 region and a duplication of 6.6Mb in the 7q35q36.1 region. The parents' karyotype analysis and CMA results were normal, indicating a new mutation. LESSONS CMA molecular diagnostic analysis can effectively detect chromosomal microdeletions or microduplications, clarify the relationship between fetal genotype and clinical phenotype, and provide a reference for prenatal diagnosis of chromosomal microdeletion-duplication syndrome.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 7
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Chromosome Deletion
/
Chromosome Duplication
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
Medicine (Baltimore)
Year:
2024
Document type:
Article