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Latest Research Articles

04
Aug

8q24 deletion and clinical significance

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...
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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...
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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...
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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...
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