02
May
CDO Spring 2022 Newsletter
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Chromosome Disorder Outreach’s Spring 2022 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner, Ask the Doctor and new research updates. Download a copy of the Spring 2022 issue here. Questions, comments or to submit an article for an upcoming issue contact info@chromodisorder.org
18
Mar
Chromosome 20p deletion, mutation and the FOXA2 gene
Chromosome 20p deletion, mutation and the FOXA2 gene. The FOXA2 gene is important in the development of the pituitary gland. Development of the pituitary gland (PG) depends on a complex action of several transcription factors. Underdevelopment of the PG leads to growth delay, defects in metabolism, reproduction and other functions.... Read More
18
Mar
Clinical features of 22q11.2 deletion syndrome
Clinical features of 22q11.2 deletion syndrome also known as DiGeorge syndrome. The authors analyzed clinical manifestations of DiGeorge syndrome caused by deletion 22q11.2 in a large cohort of patients in one Israeli hospital. The studied group included 98 patients. Diagnosis was confirmed by cytogenetic examination in all cases. Males and... Read More
18
Mar
2q33.1 microdeletion and SATB2 gene
2q33.1 microdeletion and the SATB2 gene – phenotypic effects. Deletions of 2q33.1 involving the SATB2 gene are relatively rare. This disorder is known also as Glass syndrome. Only 33 cases of this condition have been reported previously. The authors report 17 new patients and provide a detailed analysis of all... Read More
16
Mar
Greig cephalopolysyndactyly syndrome and 7p14 deletion
Greig cephalopolysyndactyly syndrome (GCPS) and chromosome 7p14 deletion facial dysmorphism and developmental delay. Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder. The main manifestations of this condition are macrocephaly, facial dysmorphism and polysyndactyly (preaxial polydactyly is an association with syndactyly between several fingers and/or toes). Usually the genetic basis... Read More
