By

Linda Sorg

30
Jan

Haydn Kirkwood Kramer in Memoriam

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...
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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...
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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...
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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...
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