Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study
The 15q11.2 BP1-BP2 microdeletion is associated with neurodevelopmental diseases. However, most studies on this microdeletion have focused on adults and children. Thus, in this study, we summarized the molecul... (Source: BMC Pregnancy and Childbirth)
Source: BMC Pregnancy and Childbirth - January 3, 2024 Category: OBGYN Authors: Meiying Cai, Aixiang Lv, Wantong Zhao, Liangpu Xu, Na Lin and Hailong Huang Tags: Research Source Type: research
Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization
ConclusionOur findings provide a reference for the evaluation of the pathogenicity of mutations in related genes that cause protein truncation in clinical practice. According to the characteristics of breakpoints, non-homologous end joining and microhomology-mediated break-induced replication may be the main mechanism for ABCRs formation. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - January 1, 2024 Category: Reproduction Medicine Source Type: research
194 Fetal fraction amplification dramatically increases PPV for 22q11.2 deletion syndrome in prenatal cell-free DNA screening
22q11.2 deletion syndrome occurs in approximately 1 in 2,000-4,000 births. Prenatal cell-free DNA screening (pcfDNA) can detect fetuses affected by deletions as small as 2.5 Mb. Fetal fraction amplification (FFA), which has been shown to yield an average fetal fraction (FF) in excess of 20%, may further enhance pcfDNA detection of these deletions. Positive predictive values (PPV) of pcfDNA screening for 22q11.2 microdeletion have been reported between 20%-50%. Here, we sought to describe the impact of FFA on the PPV of 22q11.2 microdeletion screening using a whole-genome sequencing (WGS)-based pcfDNA platform. (Source: Ame...
Source: American Journal of Obstetrics and Gynecology - January 1, 2024 Category: OBGYN Authors: Carly Hammer, Summer Pierson, Devika Chawla, Sarah Ratzel, Katie Johansen Taber, Dale Muzzey Source Type: research
910 Performance of SNP-based cell-free DNA prenatal screening for 22q11.2 deletion syndrome in a commercial population
Evaluate positive predictive value (PPV) of 22q11.2 deletion syndrome (22q del) with SNP-based prenatal cfDNA screening in a commercial population. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - January 1, 2024 Category: OBGYN Authors: Wendy DiNonno, Melissa Maisenbacher, Georgina Goldring, Melda Balcioglu, Kayla Turner, M. Caleb Meads, Kayla Ruiz, Priyanka Arya, Jeffrey Meltzer, Katherine Howard Source Type: research
AZF microdeletion affects semen parameters, sex hormone levels, and chromosome karyotypes in infertile men in Xinjiang
In conclusion, AZF microdeletions can lead to a decline in semen quality in men, and different types of deletions have different effects on semen parameters, sex hormone levels, and karyotype analysis. Further treatments should be selected based on the AZF microdeletion area.PMID:38158680 | DOI:10.14715/cmb/2023.69.13.17 (Source: Cellular and Molecular Biology)
Source: Cellular and Molecular Biology - December 30, 2023 Category: Molecular Biology Authors: Ningning Han Xiaoran Liu Source Type: research
AZF microdeletion affects semen parameters, sex hormone levels, and chromosome karyotypes in infertile men in Xinjiang
In conclusion, AZF microdeletions can lead to a decline in semen quality in men, and different types of deletions have different effects on semen parameters, sex hormone levels, and karyotype analysis. Further treatments should be selected based on the AZF microdeletion area.PMID:38158680 | DOI:10.14715/cmb/2023.69.13.17 (Source: Mol Biol Cell)
Source: Mol Biol Cell - December 30, 2023 Category: Molecular Biology Authors: Ningning Han Xiaoran Liu Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
Neonatal manifestation of 22q11.2 deletion syndrome - four case reports and a mini-literature review
This report describes four cases of newborns with 22q11.2 syndrome, presenting with a variety of clinical findings typical for this genetic disorder. The patients present symptoms ranging from mild to life-threatening conditions. The severity of the congenital heart defect determines the survival rate in infancy. Each needs of each patient must be tailored to his or her specific medical problems. A holistic approach, addressing medical and behavioural needs, can be very helpful.PMID:38153084 | DOI:10.26444/aaem/165981 (Source: Annals of Agricultural and Environmental Medicine : AAEM)
Source: Annals of Agricultural and Environmental Medicine : AAEM - December 28, 2023 Category: Environmental Health Authors: Monika W ójtowicz-Marzec Barbara Wysoki ńska Andrzej Wysoki ński Source Type: research
