Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.
Chen, Chih-Ping
Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. [electronic resource] - Taiwanese journal of obstetrics & gynecology Nov 2019 - 859-863 p. digital
Publication Type: Case Reports; Journal Article
1875-6263
10.1016/j.tjog.2019.07.031 doi
Abnormalities, Multiple--diagnosis
Adult
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
DNA--genetics
DNA Helicases--genetics
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Female
Humans
Kidney Tubules, Proximal--abnormalities
Megalencephaly--diagnosis
Mutation, Missense
Oligohydramnios--diagnosis
Pregnancy
Ultrasonography, Prenatal--methods
Urogenital Abnormalities--diagnosis
Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. [electronic resource] - Taiwanese journal of obstetrics & gynecology Nov 2019 - 859-863 p. digital
Publication Type: Case Reports; Journal Article
1875-6263
10.1016/j.tjog.2019.07.031 doi
Abnormalities, Multiple--diagnosis
Adult
Chromosome Deletion
Chromosomes, Human, Pair 1--genetics
DNA--genetics
DNA Helicases--genetics
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Female
Humans
Kidney Tubules, Proximal--abnormalities
Megalencephaly--diagnosis
Mutation, Missense
Oligohydramnios--diagnosis
Pregnancy
Ultrasonography, Prenatal--methods
Urogenital Abnormalities--diagnosis