Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and brain abnormalities, including frontal cortical atrophy. These two boys resembled the two brothers described by , two maternal cousins subsequently reported by and a Brazilian boy described by . Upon further investigation, we detected a cryptic subtelomeric deletion of chromosome region 22q13, not present in either parent and probably due to a maternal germinal mosaicism. Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion.
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PMID:Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome. 1593 Sep 1

We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a large 'square' forehead, prominent supraorbital ridges, broad nasal tip, prominent lower lip and minor dental anomalies. We think that our proband is affected by Clark-Baraitser syndrome, a rare X-linked mental retardation disorder, to date described only in five male subjects. We present a more complete definition of the clinical phenotype of the syndrome with particular attention to the behavioural aspect that, in combination with the body size and the dysmorphic picture, we think is distinctive for the Clark-Baraitser syndrome. We also summarize the mild features described in female relatives of the patients, as it could disclose a possible carrier condition and be of help with genetic counselling in the families with male patients, until a molecular test is available.
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PMID:Clark-Baraitser syndrome: report of a new case and review of the literature. 1593 Sep 2