Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases
CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.PMID:37475171 | DOI:10.1684/abc.2023.1816 (Source: Annales de Biologie Clinique)
Source: Annales de Biologie Clinique - July 21, 2023 Category: Biochemistry Authors: Fatima Ezzahra Aouni Khawla Zerrouki Fatimazahra Smaili Anass Ayyad Sahar Messaoudi Abdeladim Babakhouya Rim Amrani Mariam Tajir Source Type: research
Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases
CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.PMID:37475171 | DOI:10.1684/abc.2023.1816 (Source: Annales de Biologie Clinique)
Source: Annales de Biologie Clinique - July 21, 2023 Category: Biochemistry Authors: Fatima Ezzahra Aouni Khawla Zerrouki Fatimazahra Smaili Anass Ayyad Sahar Messaoudi Abdeladim Babakhouya Rim Amrani Mariam Tajir Source Type: research
Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases
CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.PMID:37475171 | DOI:10.1684/abc.2023.1816 (Source: Annales de Biologie Clinique)
Source: Annales de Biologie Clinique - July 21, 2023 Category: Biochemistry Authors: Fatima Ezzahra Aouni Khawla Zerrouki Fatimazahra Smaili Anass Ayyad Sahar Messaoudi Abdeladim Babakhouya Rim Amrani Mariam Tajir Source Type: research
Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases
CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.PMID:37475171 | DOI:10.1684/abc.2023.1816 (Source: Annales de Biologie Clinique)
Source: Annales de Biologie Clinique - July 21, 2023 Category: Biochemistry Authors: Fatima Ezzahra Aouni Khawla Zerrouki Fatimazahra Smaili Anass Ayyad Sahar Messaoudi Abdeladim Babakhouya Rim Amrani Mariam Tajir Source Type: research
Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy
CONCLUSION: QF-PCR combined with ultrasound in early pregnancy can effectively improve the accuracy of prenatal diagnosis of fetal chromosome aneuploidy, especially for high-risk pregnant women with a high, positive, predictive value, providing a feasible detection method for clinical practice.PMID:37471660 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - July 20, 2023 Category: Complementary Medicine Authors: Chan Li Lijuan Xiao Li Tang Daidi Zeng Suran Huang Source Type: research
Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient
CONCLUSION: We report a novel complex case of neonatal progeria with atrial septal defects, trisomy 18 without typical features of Edward syndrome. The phenotype of the patient was more consistent with neonatal progeria, thus we speculate it to be caused by the FREM1 variants.PMID:37470964 | DOI:10.1007/s11033-023-08595-y (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - July 20, 2023 Category: Molecular Biology Authors: Saima Siddiqi Noor Ul Ain Mehran Kauser Zahra Mukhtar Muhammad Ansar Muhammad Umair Source Type: research
Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy
CONCLUSION: QF-PCR combined with ultrasound in early pregnancy can effectively improve the accuracy of prenatal diagnosis of fetal chromosome aneuploidy, especially for high-risk pregnant women with a high, positive, predictive value, providing a feasible detection method for clinical practice.PMID:37471660 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - July 20, 2023 Category: Complementary Medicine Authors: Chan Li Lijuan Xiao Li Tang Daidi Zeng Suran Huang Source Type: research
First Croatian Case of Double Aneuploidy: A Child With Klinefelter and Edwards Syndrome (48,XXY,+18) - Possible Causes and Contributing Factors
We report a case of double aneuploidy in a preterm male newborn with karyotype 48,XXY,+18 whose mother was of advanced age and infected with the SARS-CoV-2 virus during the early stages of her pregnancy. The clinical features observed in the newborn included intrauterine growth retardation, dysmorphic facial features, overlapping fingers on both hands, respiratory distress syndrome, ventricular septal defect, patent ductus arteriosus, persistent pulmonary hypertension, and bilateral clubfoot, a phenotype that mainly correlates with Edwards syndrome (trisomy 18). To our knowledge, this is the first reported case of double a...
Source: Acta Medica: Hradec Kralove - June 29, 2023 Category: General Medicine Authors: Ena Batinovi ć Anet Papazovska Cherepnalkovski Bernarda Lozi ć Luka Brajkovi ć Ivana Zanchi Vesna Pavlov Marija Bucat Source Type: research
