Prenatal diagnosis of two Turner syndrome fetuses with 46,X,i(X)(q10) / 中华围产医学杂志

Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10).Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study.One gravida,who was admitted in October 2016,was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography,which found remarkably shorter humeri and femora than fetus of the same gestations.The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017.Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis.Peripheral blood karyotyping was also offered to the two women and their partners.Results FISH test for amniotic fluid did not find numerical abnormality in 13,18,21,and sex chromosomes in these two fetuses.Karyotype analysis showed that the two fetuses were both 46,X,i(X) (q10),while their parents were normal.Both cases were terminated after genetic counseling.Conclusions Prenatal serological screening,systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46,X,i(X) (q10).Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.

Phenotypic and genetic analysis of a boy with 3p26.3-pter deletion and 7q31.33-qter duplication / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To delineate the nature and origin of chromosomal copy number variants (CNVs) in a boy with mental retardation and multiple congenital malformation.</p><p><b>METHODS</b>The karyotypes of the patient and his parents were analyzed with routine G-banded chromosomal analysis. Genome DNA was analyzed by next generation sequencing (NGS).</p><p><b>RESULTS</b>The patient was found to harbor a structural aberration involving chromosome 3p. The karyotype of his father was 46,XY,t(3;7)(p26;q31), while his mother was found to be normal. NGS analysis of the patient revealed a 2.16 Mb microdeletion at 3p26.3-pter and a duplication at 7q31.33-qter.</p><p><b>CONCLUSION</b>The structural aberration of 3p carried by the patient has derived from his father whom carried a balanced translocation of t(3;7), and his karyotype was finally determined as 46,XY,der(3) t(3;7)(p26.3;q31.33)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 3p26.3-pter microdeletion and 7q31.33-qter duplication.</p>

Short rib-thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1: a case report / 中华围产医学杂志

We reported one fetus who was identified with significantly short humeri and femora,bulging abdomen and narrowed chest at 22+2 weeks' gestation,which was consistent with clinical findings at birth.Genetic analysis revealed that this was a case of short-rib thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1.We summarized the features of prenatal ultrasound imaging and results of postpartum genetic analysis of this case to provide information for prenatal ultrasound diagnosis and postpartum consultation.