Publications by authors named "Carrie Fagerstrom"
Article Synopsis
- Baratela-Scott syndrome (BSS) is a rare genetic disorder caused by mutations in the XYLT1 gene, leading to symptoms like short stature and developmental delays.
- In a study involving 10 families with BSS, only two families had identifiable genetic variants, while others showed hypermethylation of the XYLT1 gene, indicating additional non-sequence-based alterations.
- The findings suggest that BSS is also linked to a trinucleotide repeat expansion in the XYLT1 promoter, highlighting the need for researchers to consider epigenetic changes when studying genetic disorders.
Characteristic features of the 12q14 microdeletion syndrome include low birth weight, failure to thrive, short stature, learning disabilities and Buschke-Ollendorff lesions in bone and skin. This report on two additional patients with this microdeletion syndrome emphasizes the rather constant and uniform phenotype encountered in this disorder and refines the critical region to a 2.61 Mb interval on 12q14.
View Article and Find Full Text PDFThis report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.
View Article and Find Full Text PDF