Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not ...
Management options and parental voice in the treatment of trisomy 13 and 18Trisomy 18 (T18) is a genetic disorder with cardiac lesions in up to 90% of patients. Cardiac surgery is not frequently offered because of the overall poor prognosis, although this has recently been challenged. Our ...
"She was finally mine": the moral experience of families in the context of trisomy 13 and 18– a scoping review with thematic analysis Introduction: The value of a short life characterized by disability has been hotly debated in the literature on fetal and neonatal outcomes. Methods: We co....
Recent advances implicate amino acid neurotransmission in the pathophysiology and treatment of mood and anxiety disorders. Riluzole, which is approved and
is suggestive of a syndromic form [14]. Prader-Willi syndrome is the most common one, whereas Bardet-Biedl, Alström, Cohen, Borjeson-Forssman and Carpenter are more rarely observed [15,16,17,18,19,20]. Obesity occurs frequently in children with trisomy 21, Klinefelter and Turner syndromes...
13 A recommendation was rated as A when it was based on at least one meta-analysis, systematic review, or RCT directly applicable to the target population and demonstrating overall consistency of results; B, when it was based on a body of evidence that included systematic reviews of case-...
Cases were women with a trisomic pregnancy (trisomies 13, 18 or 21) resulting from fresh IVF treatment and confirmed by karyotyping. Cases were included regardless of pregnancy outcome. Controls were women with a live born child without a trisomy, resulting from fresh IVF treatment. Low oocyte ...
prematurity; SGA infants; hyaline membrane disease; congenital heart disease; anencephaly; hydrocephalus; interventricular hemorrhage; spina bifida cystica; esophageal atresia with tracheoesophageal fistula; duodenal atresia; trisomy 21, 18, 13; Lesch-Nyhan syndrome; Tay-Sachs disease; De Lange syndrome ...
In situ hybridization was performed to study the clinical significance of trisomy 12 in fifty patients with B-cell chronic lymphocytic leukemia at various stages of disease. Trisomy 12 was detected in 12845% (median 53%) of the circulating neoplastic cells in seven out of 20 patients with advanc...
Trisomy 12 23 (14) Normal 33 (21) Del(13q) 54 (34) Unknown 1 (1) Mutated TP53 Yes 16 (10) No 142 (89) Unknown 1 (1) Del(17p) or mutated TP53 Yes 27 (17) No 129 (81) Unknown 3 (2) IGHV gene mutation status Unmutated 89 (56) Mutated 66 (42) Unknown 4 (3) Co...