Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Sapienza University of Rome, Roma, Latium, Italy
Clinical Dysmorphology (Impact Factor: 0.61). 08/2005; 14(3):127-32. DOI: 10.1097/00019605-200507000-00004
Source: PubMed


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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    • "In particular, the thin corpus callosum and white matter and enlarged ventricles were not more severe in older patients. While few brain-imaging studies have been reported for individuals with 22q13 deletions, posterior fossa or cerebellar abnormalities were previously noted for seven patients, thin corpus callosum in another seven, and ventriculomegaly in at least three [Doheny et al., 1997; Lindquist et al., 2005; Tabolacci et al., 2005; Philippe et al., 2008; Bonaglia et al., 2011]. However, figures of brain-imaging studies were rarely provided. "
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