De novo inherited Xq25 deletion: hints from preimplantation genetic testing in alobar holoprosencephaly.

Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.

Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.

Correlation Between Serum Creatinine-to-Cystatin C Ratio and Prognosis of Patients with Hip Fracture.

Objective: This study aimed to investigate the association between the serum creatinine-to-cystatin C ratio (CCR) and the prognosis of patients with hip fracture.

Methods: This retrospective cohort study included patients who underwent hip fracture surgery at a tertiary hospital in China between January 2018 and December 2023. CCR was calculated from the preoperative serum creatinine and cystatin C levels.

Predicting Preoperative Deep Vein Thrombosis Using d-Dimer-to-Albumin Ratio Combined with Neutrophil-to-Lymphocyte Ratio in Older Patients with Hip Fracture.

Objective: This study aimed to explore the potential value of the d-dimer to albumin ratio (DAR) combined with the neutrophil-to-lymphocyte ratio (NLR) for predicting preoperative lower extremity deep vein thrombosis (DVT) in older patients with hip fracture.

Methods: Demographic characteristics, comorbidities, medication history, and preoperative laboratory test results were collected from older patients with hip fracture between 2018 and 2023. Binary logistic regression analysis was used to assess the association between the DAR, NLR, and DVT.

[Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].

Objective: To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects.

Methods: The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA).

[Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation].

Objective: To identify genomic aberrations underlying pathogenesis of split hand foot malformation (SHFM) in two Chinese families, and to provide genetic counseling and prenatal diagnosis for them.

Methods: Two sets of peripheral blood and amniotic fluid samples were collected from the patients. One was processed with routine culture and karyotype analysis.

[One case of 2q37 deletion syndrome: clinical and genetic diagnosis].

Objective: To diagnose a new born baby with 2q37 deletion syndrome by comprehensive use of cytogenetic and molecular techniques and to investigate the phenotype characteristics and applicability of array-comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) for detection of this syndrome.

Method: Following conventional chromosome preparation, G banded karyotyping was performed.Genomic DNA was extracted using standard procedures, which were then analyzed by array-CGH and MLPA.

[Application of array-CGH and MLPA for detection of 4 cryptic unbalanced translocations].

Objective: To use array comparative genomic hybridization (array-CGH) and multiplex ligation-dependent probe amplification (MLPA) to detect unbalanced rearrangements in 4 cases suspected to have chromosome disease but were undetected with conventional karyotype analysis, and to assess the applicability of array-CGH and MLPA for detection of unbalanced translocation.

Methods: Genomic DNA was extracted with standard procedures. All cases were analyzed by array-CGH and subtelomeric MLPA.

[Analysis of fetal chromosomal karyotype and etiology in 252 cases of early spontaneous abortion].

Objective: To investigate the relationship between fetal chromosomal karyotype and early spontaneous abortion, and the effect of the environmental factors on spontaneous abortion.

Methods: Choronic villi from 252 cases of missed abortion were sampled as patient group and 50 normal pregnancies as control group. Chorionic villi were cultured and karyotype analysis was performed by G-banding.

[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].

Objective: To study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.

Methods: PCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.

Results: The DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor.

[Chromosome aberration in a full-term neonate with low birth weight using microarray comparative genomic hybridization].

Objective: To analyze the chromosome aberration in a full-term male neonate with low birth weight, and to explore the possible causes for growth retardation in intrauterine development for the neonate.

Methods: Genomic DNA was extracted from peripheral leukocytes of the neonate. Detection of genomic DNA copy number gain and loss was performed using microarray comparative genomic hybridization.