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Latest Research Articles

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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29
Jun

Feingold syndrome

Feingold syndrome is the association of learning disability, microcephaly, facial dysmorphism, short stature, brachymesophalangy (shortness of the middle phalanges of the fingers) and other digital anomalies. There are two types of Feingold syndrome: many patients with FS type 1 reveal also gastrointestinal defects, mainly esophageal or duodenal atresia. FS type...
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