04
Aug
8q24 deletion and clinical significance
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Sometimes a chromosomal microarray analysis (CMA) shows relatively large deletions or duplications of chromosomal material, but the clinical significance of these abnormalities remains unclear. This situation is especially important upon prenatal diagnosis when a fetus does not have any visible defects, or when only minor abnormalities are found. The authors... Read More
04
Aug
14q13 deletion, the NKX2-1 gene and BHC
Chromosome 14q13 deletion, NKX2-1 deletion or mutation and BNC. The chromosomal segment 14q13 includes several genes, including the NKX2-1 gene. Deletions or mutations of this gene cause benign hereditary chorea (BHC). Manifestations of this disorder, which occurs in childhood, include non-progressive choreic movement, usually without cognitive decline. There are... Read More
30
Jun
Ring chromosome 20 syndrome: genetics, clinical characteristics, and overlapping phenotypes
Ring chromosome 20 syndrome – the genetics of inheritance and the main symptom: seizures. Ring autosomes are relatively rare, but ring chromosome 20 may be the most common type of all autosomal rings. Based on the analysis of the literature and their own experience, the authors showed that ring chromosome... Read More
30
Jun
7p12.1 microdeletions the IKZF1 gene and cancer predisposition
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia. Proximal deletions of the short arm of chromosome 7 are uncommon. The authors report two Polish patients with deletions 7p13p12.1 (in a girl) and 7p11.2p12.2 (in a boy). Clinical manifestations in the... Read More
29
Jun
Cardiac evaluation of patients with 22q11.2 duplication syndrome
Cardiac symptoms in patients with 22q11.2 duplication syndrome. Patients with isolated duplications of 22q11.2 segment show a very wide spectrum of manifestations from severely affected to practically asymptomatic persons. Some patients with duplications of 22q11.2 may have congenital heart defects (CHD). However, the spectrum and severity of CHD in dup... Read More
