30
Jun
Ring chromosome 20 syndrome: genetics, clinical characteristics, and overlapping phenotypes
0 Comment
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
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... Read More
29
Jun
Two new reported cases of 16q22.3q23.3 duplication syndrome
Two new reported cases of 16q22.3q23.3 duplication syndrome and intrafamilial variability. The authors report a 15-year-old male with developmental delay, attention deficit disorder, autism, dysmorphic features (midface hypoplasia, prognathism), absence seizures, leg discrepancy (left leg being shorter than the right one) leading to scoliosis, and polymicrogyria. As a child he... Read More
