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Delineation of two distinct 6p deletion syndromes

✍ Scribed by Angela F. Davies; Ghazala Mirza; Gurbax Sekhon; Peter Turnpenny; Frank Leroy; Frank Speleman; Caroline Law; Nicole van Regemorter; Esther Vamos; Frances Flinter; J. Ragoussis


Book ID
106137112
Publisher
Springer
Year
1999
Tongue
English
Weight
412 KB
Volume
104
Category
Article
ISSN
0340-6717

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Partial deletion of chromosome 6p: Delin
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Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge,

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## Abstract Submicroscopic deletion of the 6p25 subtelomere has recently been recognized as a clinically identifiable syndrome. To date, more than 30 cases have been described with variable cytogenetically visible 6p deletions. Terminal 6p deletions result in a clinically distinguishable phenotype.

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## Abstract Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum. GLI3 mutations in GCPS patients inc