Tag

genetic disorders

29
Jun

Two new reported cases of 16q22.3q23.3 duplication syndrome

Two new reported cases of 16q22.3q23.3 duplication syndrome and intrafamilial variability. The authors report a 15-year-old male with developmental delay, attention deficit disorder, autism, dysmorphic features (midface hypoplasia, prognathism), absence seizures, leg discrepancy (left leg being shorter than the right one) leading to scoliosis, and polymicrogyria. As a child he...
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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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07
Nov

CDO Fall 2020 Newsletter

CDO’s Fall 2020 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 an excerpt from a new book Raising a Rare Girl by Heather Lanier....
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