Optical genome mapping analysis of a Chinese pedigree with a rare chromosome 17 paracentric inversion insertion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 727-732, 2023.
Article
in Zh
| WPRIM
| ID: wpr-981816
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To carry out optical genome mapping (OGM) for a Chinese pedigree with a rare paracentric reverse insertion of chromosome 17.@*METHODS@#A high-risk pregnant woman identified at the Prenatal Diagnosis Center of Hangzhou Women's Hospital in October 2021 and her family members were selected as the study subjects. Chromosome G banding analysis, fluorescence in situ hybridization (FISH), single nucleotide polymorphism array (SNP array) and OGM were applied to verify the balanced structural abnormality of chromosome 17 in the pedigree.@*RESULTS@#Chromosomal karyotyping analysis and SNP array assay have identified a duplication of 17q23q25 in the fetus. Karyotyping analysis of the pregnant woman showed that the structure of chromosome 17 was abnormal, whilst SNP array has detected no abnormality. OGM revealed that the woman has carried a paracentric reverse insertion, which was confirmed by FISH. The karyotype of her husband was normal.@*CONCLUSION@#The duplication of 17q23q25 in the fetus has derived from a paracentric reverse insertion of chromosome 17 in its mother. OGM has the advantage for delineating balanced chromosome structural abnormalities.
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
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Prenatal Diagnosis
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Chromosomes, Human, Pair 17
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Chromosome Aberrations
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Chromosome Mapping
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In Situ Hybridization, Fluorescence
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East Asian People
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Chromosome Inversion
Limits:
Female
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Humans
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Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Type:
Article