18
Mar
Clinical features of 22q11.2 deletion syndrome
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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
16
Mar
Chromosome 3q21 deletion and GATA2 gene mutation
Chromosome 3q21 deletion and GATA2 gene mutation can cause immunodeficiency and other problems leading to cancer. The chromosomal segment 3q21 contains several genes, including the GATA2 gene. This gene encodes a zing finger transcription factor expressed in the precursors of several sorts of blood cells. Mutations of the GATA2 gene... Read More
16
Mar
Chromosome 7p12.3 microduplication
Chromosome 7p12.3 microduplication detected in an infant. The clinical consequences of a duplication in the 7p12 area are virtually unknown. The authors report on an 11-month old girl with an association of anal atresia, perineal hamartoma (which appeared as a polyp-like protrusion in the perineum) and facial dysmorphism. The patient... Read More
