09
Apr
Lamb-Shaffer syndrome (LSS) chromosome 12p12.1 deletion
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Lamb-Shaffer syndrome (LSS) is characterized by intellectual disability, behavioral problems, microcephaly and facial dysmorphism. Strabismus, scoliosis and mild skeletal defects may be found in several individuals. LSS was reported in patients having small deletions in the short arm of chromosome 12 (12p12.1). Deletions in all these patients involved the SOX5... Read More
25
Jan
Chromosome 6p22-p24 deletion JARID2 gene mutation
Chromosome 6p22-p24 deletion JARID2 gene mutation. Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). The loss of the JARID2 gene located at 6p22.3 was considered to be the most reliable cause of ID, but this proposal had to be confirmed. The authors examined 16... Read More
09
Jan
Brain abnormalities in Cri-du-Chat syndrome – MRI findings
Brain Abnormalities in Cri-du-Chat syndrome – MRI findings. The clinical manifestations of cri-du-chat syndrome are well known. Previous studies have revealed segments of chromosome 5p responsible for the cat-like cry, growth delay, microcephaly, etc. Structural brain anomalies detected by magnetic resonance imaging (MRI) have not been specifically investigated on a... Read More
05
Dec
Tremor is a main feature of 9p13 deletion syndrome
New research publication discusses the clinical phenotype of chromosome 9p13 deletion syndrome with tremor as a cardinal manifestation. The distal deletion of chromosomal 9p has been well studied. However, proximal deletions of 9p are far less common, with only a few cases having been published. This study focuses on two... Read More
19
Nov
Silver-Russell Syndrome and 12q14.3 microdeletion
Silver-Russell Syndrome (SRS) is a genetic disorder causing failure with prenatal and postnatal growth. Other common characteristics of SRS include a larger head at birth, protruding forehead in early life, body asymmetry and substantial feeding difficulties. SRS can be caused by different genetic mechanisms. The most common abnormalities are related... Read More
