Publications by authors named "S Guterman"
Article Synopsis
- Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
- The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
- This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments.
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- The study focused on 1p36 deletion syndrome, a genetic condition identified through prenatal testing, noted for developmental delays and facial features.
- Ten new cases were diagnosed around 19 weeks gestation, with deletion sizes varying from 1.6 to 16 Mb, most cases showing no other chromosomal abnormalities.
- Researchers suggest that certain ultrasound findings, like brain and heart defects, should alert doctors to the possibility of this syndrome.
Article Synopsis
- The study aimed to assess the effectiveness of chromosome microarray (CMA) testing in detecting genetic issues in fetuses diagnosed with isolated congenital heart defects (CHDs) after prenatal diagnosis.
- An analysis of 239 fetuses revealed 33 copy number variations (CNVs), with 19 being pathogenic, suggesting a 10.4% overall detection rate of anomalies, which varied by specific CHD type.
- The findings indicate that CMA offers a clinically significant increase in diagnostic yield (3.1%), emphasizing the need for testing beyond just the common 22q11.21 chromosomal abnormalities for isolated CHD cases.
Article Synopsis
- - Recent studies hinted at a link between heparin treatment and non-reportable cell-free DNA (cfDNA) test results, but lacked solid methodology to prove this connection.
- - Researchers conducted a retrospective analysis of pregnancies with non-reportable cfDNA results and found that heparin treatment was present in only a small percentage, suggesting other factors were more influential.
- - In lab tests, heparin showed no effect on fetal DNA measurements, indicating it does not influence the accuracy of cfDNA screening for aneuploidies.