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Lowry–Wood syndrome (LWS) is a rare condition characterized by multiple epiphyseal dysplasia (MED), microcephaly, and congenital nystagmus. A variable degree of mental retardation can also be present. It is probably inherited as an autosomal recessive trait. We report a new case of MED and...
We report on a 6.5‐year‐old girl with a balanced translocation between the short arms of chromosomes 1 and 6. She was referred for genetics evaluation because of developmental speech delay and congenital absence of several deciduous and permanent teeth. She was very sensitive to noise...
Obsessive‐compulsive disorder (OCD) is a chronic psychiatric disease characterized by recurrent obsessions, compulsions, or both. The prevalence rate of OCD is 2.1% in the general population. Here we report cytogenetic analysis of 26 patients affected with OCD. In one male patient (OCD‐K33),...
We report cytogenetic and molecular findings in a family in which Pelizaeus‐Merzbacher disease has arisen by a sub‐microscopic duplication of the proteolipid protein (PLP1) gene involving the insertion of ∼600 kb from Xq22 into Xq26.3. The duplication arose in an asymptomatic mother on a...
Clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome. This case represents the fourth report of this rare disorder. © 2003 Wiley‐Liss, Inc.
We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome....
Satoyoshi syndrome (OMIM 600705) is a rare disorder of unknown cause characterized by progressive painful intermittent muscle spasms, amenorrhea, alopecia, malabsorption, and skeletal abnormalities mimicking a skeletal dysplasia. In this report, we describe a Caucasian 12‐year‐old girl that...
Chromosomal segregation anomalies often result in trisomy of a single chromosome, which can lead to a disastrous phenotype in the fetus. However, this trisomy is often “rescued” via loss of one of the triploid chromosomes. Depending on which chromosome is eliminated in the rescue, a condition...
In 1987, Ritscher et al. described two sisters with brain malformations of the posterior fossa, congenital heart defects, and similar craniofacial dysmorphisms. Subsequently, more than 20 cases have been reported and the syndrome became known as 3C (cranio‐cerebello‐cardiac) or...
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