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To carry out prenatal diagnosis for a fetus with increased nuchal translucency (NT) and another fetus with non-invasive prenatal testing (NIPT) suggested reduced sex chromosomes by cytogenetic and molecular techniques.

Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were applied for the diagnoses. Peripheral blood samples were also taken from their parents for chromosomal karyotyping and SNP-array analysis.

Both fetuses showed a 46,X,+mar/45,X karyotype. SNP-array has detected a 22.0 Mb duplication at Yp11.31q11.223 and a 3.9 Mb microdeletion at Yq11.223q11.23 in fetus 1, and a 16.9 Mb duplication at Yp11.31q11.221 and a 8.1 Mb deletion at Yq11.222q11.23 in fetus 2. The results were confirmed by FISH. https://www.selleckchem.com/products/rmc-4630.html The parents of both fetuses were normal by chromosomal karyotyping and SNP-array.

Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.

Combined use of various techniques can enable accurate prenatal diagnosis and genetic counseling.

To determine the size and origin of a small supernumerary marker chromosome (sSMC) identified in a patient featuring developmental retardation.

High-throughput sequencing for copy number variation (CNV-seq) was carried out to delineate the sSMC identified upon G-banded chromosomal karyotyping. The genotype-phenotype correlation was explored by database retrieval and literature analysis.

The patient was found to have a karyotype of mos 47,XX,+mar[36]/46,XX[23]. CNV-seq has identified a 18 Mb duplication at 5p14.1-p12 (hg19 27,399,261-46,083,784)x2.6 with a mosaicism rate of approximately 60%.

Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.

Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.

To explore the genetic basis for a pedigree affected with KBG syndrome.

Clinical data of three patients from the pedigree (the proband, his mother and sister) was collected. Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing (WES). Suspected variant was verified by Sanger sequencing.

The proband was found to harbor a heterozygous c.4398_4401del (p.Glu1467AsnfsTer63) frameshift variant of the ANKRD11 gene by WES. Sanger sequencing confirmed that the same variant was also present in his mother and sister, but not in his father.

The c.4398_4401de (p.Glu1467AsnfsTer63) variation of the ANKRD11 gene probably underlies the KBG syndrome in this pedigree.

The c.4398_4401de (p.Glu1467AsnfsTer63) variation of the ANKRD11 gene probably underlies the KBG syndrome in this pedigree.

To provide genetic testing and prenatal diagnosis for a woman with Sheldon-Hall syndrome.

The woman was subjected to targeted capture and next-generation sequencing for variant of genes associated with skeletal disorders. And the result was verified in her parents and fetus.

The woman was found to harbor a c.188G>A variant of the TNNT3 gene, which was also found in her affected mother and the fetus. Her grandmother and grandmother's brother had similar manifestations, which was in line with an autosomal dominant inheritance. The same variant was not found in her father.

The c.188G>A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.

A variant of the TNNT3 gene probably underlay the distal joint contracture in this pedigree, based on which prenatal diagnosis was attained.

To detect variant of PIH1D3 gene in a Chinese pedigree affected with primary ciliary dyskinesia (PCD) and explore its genotype-relationship correlation.

PCD patients from the pedigree were analyzed. Ultrastructures of the cilia and flagella of the nasal mucosa were analyzed. DNA samples of the patients were sequenced.

The proband and all other affected members of his pedigree had a history of various degree of respiratory tract infection. Two patients had visceral heterotopia, and one was infertile. Electronic microscopy revealed abnormal structures of cilia and flagella. The inner and outer dynein arms were missing, and the arrangement of cilia was disordered. DNA sequencing showed that all patients have carried a c.355C>T variant of the PIH1D3 gene. The corresponding nucleotide was located in a key PIH1 domain, and the site is highly conserved among human, macaque, domestic dog, mouse, xenopus and zebrafish.

Deletion of the PIH1D3 gene can lead to failure of assembly of inner and outer dynein arms in nasal cilia and sperm flagella, and failure of normal swimming of cilia and sperm. The diagnosis rate of PCD can be validated by genetic testing.

Deletion of the PIH1D3 gene can lead to failure of assembly of inner and outer dynein arms in nasal cilia and sperm flagella, and failure of normal swimming of cilia and sperm. The diagnosis rate of PCD can be validated by genetic testing.

To explore the clinical characteristics and genetic basis for an infant featuring combined pituitary hormone deficiency.

Clinical data and results of DNA sequencing of the child were analyzed.

The 10-month-old male infant presented with recurrent hypoglycemia, extremely poor appetite and constipation, and severe growth retardation from 2 months on, in addition with pituitary hormone deficiency involving growth hormone, thyroid stimulating hormone, and prolactin. Next generation sequencing revealed a novel heterozygous c.767-769del (p.Glu256del) variant of the POU1F1 gene in the patient.

The patient was diagnosed with combined pituitary hormone deficiency due to the POU1F1 gene variant, for which replacement therapy including thyroxine and growth hormone was provided. Hypoglycemia is unusual in patients carrying POU1F1 gene variants and requires close attention in clinical practice. For children with multiple pituitary hormone deficiency, genetic testing should be recommended to determine the cause.

The patient was diagnosed with combined pituitary hormone deficiency due to the POU1F1 gene variant, for which replacement therapy including thyroxine and growth hormone was provided.