Mosaic trisomy 22 in a 4‐year‐old boy with congenital heart disease and general hypotrophy: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22663
Abstract: Trisomy 22 mosaicism is a rare autosomal anomaly with survival compatibility. Recognition of the complete trisomy 22 which is incompatible with life from the mosaic form is critical for genetic counseling. Affected mosaic cases have… read more here.
Keywords: year old; old boy; mosaic trisomy; trisomy year ... See more keywords
Transient Myeloproliferative Disorder as the Presenting Feature for Mosaic Trisomy 21.
Sign Up to like & getrecommendations! Published in 2021 at "Cold Spring Harbor molecular case studies"
DOI: 10.1101/mcs.a006126
Abstract: Trisomy 21 is a common congenital disorder with well documented clinical manifestations, including an increased risk for transient myeloproliferative disorder as a neonate and leukemia in childhood and adolescence. Children with mosaic trisomy 21 can… read more here.
Keywords: disorder presenting; mosaic trisomy; myeloproliferative disorder; disorder ... See more keywords
The First Reported Case of Meckel–Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric and Developmental Pathology"
DOI: 10.1177/1093526616689184
Abstract: Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes… read more here.
Keywords: mosaic trisomy; gruber syndrome; case; meckel gruber ... See more keywords