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Your search keyword '"Lin, Yangyang"' showing total 3 results
Start Over Author "Lin, Yangyang" Topic prenatal diagnosis
3 results on '"Lin, Yangyang"'

1. A new partial trisomy 12p with artery catheter vagus, congenital cataract, no turbinate and external auditory canal

Author

Liu Yanhui, Lin Yangyang, Wang Kun, He Yi, Xie Rungui, Xu Wanfang, Wei Shundi, Zhang Xiaoyan, and Zhu Baohua

Subjects
Fetus, Philtrum, medicine.medical_specialty, Monosomy, Depressed nasal bridge, business.industry, Prenatal diagnosis, General Medicine, Anatomy, medicine.disease, Umbilical cord, Surgery, medicine.anatomical_structure, Anteverted nares, Medicine, Hypertelorism, medicine.symptom, business
Abstract

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p12-pter) transmitted from a maternal reciprocal translocation 6;12. Genetic analysis of umbilical cord blood of a 27-year-old woman, gravida 4, para 1 at 35 weeks' gestation due to a tricuspid regurgitation and orbital hypertelorism by sonography revealed an unusual karyotype of 46, XY, der (6) t (6;12) (p24;p12) mat. The pregnancy was terminated at 37 gestational weeks. The proband postnatally displayed by dysmorphic features of a round flat face with prominent cheeks and high forehead, hypertelorism, a short nose, a broad and depressed nasal bridge, anteverted nares, a deformed philtrum, an open mouth, thin upper vermilion and broad everted lower lip, low-set ears and aural atresia, broad hands with simian creases, and a short neck. By anatomy, the fetal was found to have right artery catheter vagus, congenital cataract, no turbinate and external auditory canal. Through the karoytpye-phynotpye analysis on the present patient and a review of other reported cases, we believed that the case was the first report, which expanded the database of partial trisomy 12p, and was of benefit for future clinical genetic counseling. At the same time, this study supported the viewpoint that phenotypic variability depends on the type and extent of the associated partial monosomy.

Published
2012

2. Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.

Author

Lou, Jiwu, Sun, Manna, Zhao, Ying, Ji, Zhisong, Liu, Fenghua, Li, Dongzhi, Xu, Wanfang, Lin, Yangyang, and Liu, Yanhui

Subjects
POLYMERASE chain reaction, ANEUPLOIDY, CHROMOSOME abnormalities, PRENATAL diagnosis, GENETICS
Abstract

Background: During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies. Methods: This method is based on co-amplification of segmental duplications located on two different chromosomes using a single pair of primers. Segmental duplications have a high degree of sequence identity, but have single-nucleotide differences in some regions. These sequence differences can be quantified using melting curve analysis of dual-labeled probes to estimate the relative dosages of different chromosomes. We designed two quadruplex real-time PCR assays to detect aneuploidies of chromosomes 13, 18, 21, X and Y. Results: We examined 75 aneuploid DNA samples and 56 unaffected DNA control samples using these two assays and correctly identified all samples. Four cases of unbalanced translocation were also accurately detected. The observed averaged ratio for each chromosomal disorder was similar to the theoretically expected value. Conclusions: Our real-time assay is a robust, rapid, and easy to conduct technique for prenatal diagnosis of common aneuploidies, representing a competitive alternative for use in diagnostic laboratories. [ABSTRACT FROM AUTHOR]

Published
2017
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3. Rapid detection of α-thalassaemia alleles of --SEA/, -α3.7/ and -α4.2/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.

Author

Gao, Lan, Liu, Yanhui, Sun, Manna, Zhao, Ying, Xie, Rungui, He, Yi, Xu, Wanfang, Liu, Jianxin, Lin, Yangyang, and Lou, Jiwu

Subjects
*THALASSEMIA, *MOLECULAR hybridization, *MOLECULAR probes, *MOLECULAR diagnosis, *GENETIC mutation, *GEL electrophoresis, *PRENATAL diagnosis, *QUENCHING (Chemistry)
Abstract

Objectives The aim of the study was to set up an alternative automatic molecular diagnostic method for deletional α-thalassaemia mutations without gel electrophoresis. Methods Based on the sequence variation within the two Z boxes and melting curve analysis of dually labelled probes, a real-time PCR assay was developed and validated for the rapid detection of major α-genotypes (-- SEA /αα, -- SEA /-α 3.7 , -- SEA /-α 4.2 , -- SEA /-- SEA , -α 3.7 /-α 3.7 and -α 4.2 /-α 4.2 ). Results Samples with the -α 3.7 /-α 3.7 , -α 4.2 /-α 4.2 , -- SEA /αα, -- SEA /-α 3.7 , -- SEA /-α 4.2 , and -- SEA /-- SEA genotypes could be clearly distinguished. The accuracy of this technique for these samples was 100% sensitivity and specificity. Conclusion This technique is rapid and reliable, demonstrating feasibility for use in large-scale population screening and prenatal diagnosis of deletional Hb H disease and Hb Bart's hydrops fetalis. [ABSTRACT FROM AUTHOR]

Published
2015
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