By

Linda Sorg

09
Apr

Lamb-Shaffer syndrome (LSS) chromosome 12p12.1 deletion

Lamb-Shaffer syndrome (LSS) is characterized by intellectual disability, behavioral problems, microcephaly and facial dysmorphism. Strabismus, scoliosis and mild skeletal defects may be found in several individuals. LSS was reported in patients having small deletions in the short arm of chromosome 12 (12p12.1). Deletions in all these patients involved the SOX5...
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25
Mar

Chromosome Disorder Outreach Winter – Spring 2021 Newsletter

Chromosome Disorder Outreach’s Winter-Spring 2021 Newsletter is now available! Each issue contains detailed and new information on rare chromosome disorders. The CDO newsletter includes a family spotlight, additional resources, Ask the Doctor, new research updates and in this issue information on rare chromosome disorders and COVID-19 vaccines. Download the full...
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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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