Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype.
J Int Med Res
; 52(8): 3000605241271837, 2024 Aug.
Article
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| MEDLINE
| ID: mdl-39175233
ABSTRACT
Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities are either gains or losses of large genomic regions that do not or only minimally clinically affect the individual. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. One example is the duplication of 10q11.21q11.23, which includes the 10q11.2 region. This region contains a complex set of low-copy repeats that may lead to various genomic alterations through non-allelic homologous recombination. In this report, we present a case of a de novo 10q11.21q11.23 duplication with a normal phenotype. This case may be helpful for prenatal diagnosis and genetic counseling. A combination of NIPT, prenatal ultrasound, karyotype analysis, copy number variation sequencing, and genetic counseling is helpful for the prenatal diagnosis of CNVs.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
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Diagnóstico Prenatal
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Variaciones en el Número de Copia de ADN
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Duplicación Cromosómica
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Asesoramiento Genético
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
J Int Med Res
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido