30
Jan
Haydn Kirkwood Kramer in Memoriam
0 Comment
Haydn Kirkwood Kramer May 02, 1991 – January 22, 2020 You came into this world on a warm spring day in May. Life was a challenge from the beginning. Unable to breathe on your own, you were resuscitated only to be whisked away to the NICU less than 24 hours... Read More
25
Jan
Chromosome 6p22-p24 deletion JARID2 gene mutation
Chromosome 6p22-p24 deletion JARID2 gene mutation. Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). The loss of the JARID2 gene located at 6p22.3 was considered to be the most reliable cause of ID, but this proposal had to be confirmed. The authors examined 16... Read More
09
Jan
Brain abnormalities in Cri-du-Chat syndrome – MRI findings
Brain Abnormalities in Cri-du-Chat syndrome – MRI findings. The clinical manifestations of cri-du-chat syndrome are well known. Previous studies have revealed segments of chromosome 5p responsible for the cat-like cry, growth delay, microcephaly, etc. Structural brain anomalies detected by magnetic resonance imaging (MRI) have not been specifically investigated on a... Read More
09
Dec
Darius Jackson – chromosome 13q deletion diagnosis – his story
Darius’ Story Darius Jackson is my 29 year old young adult son born with Chromosome Deletion 13q 31-32. Shortly after his birth, my husband and I were given his chromosome disorder diagnosis. I remember that moment as it was yesterday, but I can’t tell you all that was said after... Read More
05
Dec
Tremor is a main feature of 9p13 deletion syndrome
New research publication discusses the clinical phenotype of chromosome 9p13 deletion syndrome with tremor as a cardinal manifestation. The distal deletion of chromosomal 9p has been well studied. However, proximal deletions of 9p are far less common, with only a few cases having been published. This study focuses on two... Read More
