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Latest Research Articles

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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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...
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09
Apr

Lamb-Shaffer syndrome (LSS) chromosome 12p12.1 deletion

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...
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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...
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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...
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