Medicine · 2021
Prenatal diagnosis and ultrasonographic findings of partial trisomy of chromosome 6q: A case report and review of the literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Li Linlin, Yu Yang, Zhang Han, Jiang Yuting, Liu Ruizhi, Zhang Hongguo
Аннотация
RATIONALE: Partial trisomy of the long arm of chromosome 6 syndrome is a rare chromosomal disorder with distinctive phenotypic expressivity, in which cytogenetic abnormalities are usually reported in infancy and childhood. Ultrasonographic findings on trisomy of the distal long arm of chromosome 6 in previous studies are limited.
PATIENT CONCERNS: A 32-year-old, gravida 6, para 1, pregnant woman who had 4 spontaneous abortions underwent a clinical ultrasound examination at 26 weeks of gestation.
DIAGNOSES: Ultrasonographic findings were microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery. Cytogenetic and single-nucleotide polymorphism array analyses were performed to estimate genetic factors of this diagnosis by amniocentesis.
INTERVENTIONS: After genetic counseling, the patient and her husband opted to terminate the pregnancy.
OUTCOMES: Cytogenetic examination of the fetus showed the karyotype 46,XX,der(20)t(6;20)(q24;p13). The single-nucleotide polymorphism (SNP) array showed a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13.
LESSONS: Ultrasonographic findings of fetal abnormalities, including microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery, may be related to a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. More ultrasonographic and genotype studies are required to extend the phenotypic characterization of partial trisomy 6q syndrome.
PATIENT CONCERNS: A 32-year-old, gravida 6, para 1, pregnant woman who had 4 spontaneous abortions underwent a clinical ultrasound examination at 26 weeks of gestation.
DIAGNOSES: Ultrasonographic findings were microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery. Cytogenetic and single-nucleotide polymorphism array analyses were performed to estimate genetic factors of this diagnosis by amniocentesis.
INTERVENTIONS: After genetic counseling, the patient and her husband opted to terminate the pregnancy.
OUTCOMES: Cytogenetic examination of the fetus showed the karyotype 46,XX,der(20)t(6;20)(q24;p13). The single-nucleotide polymorphism (SNP) array showed a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13.
LESSONS: Ultrasonographic findings of fetal abnormalities, including microcephaly, an acoustic image of a transparent septum, a flat nasal bridge, right pulmonary artery stenosis, and a single umbilical artery, may be related to a 22.104-Mb duplication of 6q24.3q27 and a 0.784-Mb deletion of 20p13. More ultrasonographic and genotype studies are required to extend the phenotypic characterization of partial trisomy 6q syndrome.