Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

被引：0

作者：

van der Laan, Liselot ^{[1
]}

Hoekman, Daniel R. ^{[1
]}

Wortelboer, Esther J. ^{[1
]}

Mannens, Marcel M. A. M. ^{[1
]}

Kooper, Angelique J. A. ^{[1
]}

机构：

[1] Univ Amsterdam, Amsterdam Univ Med Ctr, Amsterdam Reprod & Dev Res Inst, Dept Human Genet, Amsterdam, Netherlands

来源：

MOLECULAR CYTOGENETICS | 2023年 / 16卷 / 01期

关键词：

Neocentromere; Marker chromosome; False-negative NIPT; Placental mosaicism; PHYLLOID HYPOMELANOSIS; MOSAIC TETRASOMY; DYNAMICS;

D O I：

10.1186/s13039-023-00666-w

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 -> qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.

引用

页数：7

共 50 条

[1] Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
Liselot van der Laan
Daniel R. Hoekman
Esther J. Wortelboer
Marcel M. A. M. Mannens
Angelique J. A. Kooper
Molecular Cytogenetics, 16
[2] A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype
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[3] A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.
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[4] Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere
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[5] Tetrasomy 13q31.1qter Due To an Inverted Duplicated Neocentric Marker Chromosome in a Fetus With Multiple Malformations
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[6] An analphoid marker chromosome shown to be an inverted duplication 8q23qter with a neocentromere.
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[7] CASE OF CHROMOSOME ABNORMALITY WITH 13Q
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[8] Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome
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[9] Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome
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[10] INHERITED PERICENTRIC INVERSION OF CHROMOSOME NO 2 WITH ROBERTSONIAN TRANSLOCATION (13Q 14Q) RESULTING IN TRISOMY FOR CHROMOSOME 13Q
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