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[Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication].
Zhao, Jingjing; Gao, Jingzhen; Zhao, Xiangyu; Li, Lin.
Afiliação
  • Zhao J; Department of Gynaecology and Obstetrics, Linyi People's Hospital, Linyi, Shandong 2760033, China. lilinxy1996@sina.com.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 41(5): 617-621, 2024 May 10.
Article em Zh | MEDLINE | ID: mdl-38684312
ABSTRACT

OBJECTIVE:

To explore the characteristics of a fetus with chromosome 1p36 deletion syndrome and 3p26.3p25.2 duplication.

METHODS:

A pregnant woman who had attended the Genetic Counseling Clinic of Linyi People's Hospital on February 22, 2022 and her fetus were selected as the study subjects. Clinical data were collected. Chromosomal karyotyping, fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) were carried out for the prenatal diagnosis.

RESULTS:

Ultrasonography at 24th gestational week revealed that the fetus had ventricular septal defect, single umbilical artery, and slight widening of left lateral ventricle (12 mm). The woman was found to have a karyotype of 46,XX,t(1;3)(p36.22;p25.2), and the result of FISH was t(1;3)(3pter+,1qter+;1pter+,3qter+). The fetus was found to have a karyotype of 46,X?,add(1)(p36), and CMA confirmed that it has a 9.0 Mb deletion at 1p36.33p36.22 and a 12.6 Mb duplication at 3p26.3p25.2. Combining the maternal karyotype, the molecular karyotype of the fetus was determined as 46,X?,der(1)t(1;3)(p36.22;p25.2)mat.arr[hg19]1p36.33p36.22(849467_9882666)×1, 3p26.3p25.2(61892_12699607)×3, with the former known to be associated with 1p36 deletion syndrome.

CONCLUSION:

The fetus was diagnosed with 1p36 deletion syndrome, and its 1p36.33p36.22 deletion and 3p26.3p25.2 duplication had both derived from the balanced translocation carried by its mother.
Assuntos

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Cromossomos Humanos Par 1 / Cromossomos Humanos Par 3 / Deleção Cromossômica / Duplicação Cromossômica / Cariotipagem Limite: Adult / Female / Humans / Pregnancy Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Cromossomos Humanos Par 1 / Cromossomos Humanos Par 3 / Deleção Cromossômica / Duplicação Cromossômica / Cariotipagem Limite: Adult / Female / Humans / Pregnancy Idioma: Zh Revista: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Assunto da revista: GENETICA MEDICA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: China