Your browser doesn't support javascript.
loading
Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 224-227, 2021.
Article in Chinese | WPRIM | ID: wpr-879558
ABSTRACT
OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Chromosomes, Human, Pair 17 / Genetic Testing / Chromosome Deletion / Polyhydramnios / Chromosome Disorders / Fetus / Genetic Counseling Type of study: Diagnostic study / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Main subject: Prenatal Diagnosis / Chromosomes, Human, Pair 17 / Genetic Testing / Chromosome Deletion / Polyhydramnios / Chromosome Disorders / Fetus / Genetic Counseling Type of study: Diagnostic study / Prognostic study Limits: Female / Humans / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article