27
Aug
Clinical characterization of individuals with the distal 1q21.1 microdeletion
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Clinical characterization of individuals with the distal 1q21.1 microdeletion is described in this summary. Deletions of the 1q21.1 segment may be subdivided into two groups: proximal (located in the interval of 144.9-146.2 Mb) and distal (~146.4-148.8 Mb). Proximal del 1q21.1 in the presence of modifying variant in RBM8A leads to... Read More
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... Read More
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... Read More
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... Read More
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.... Read More
