Partial deletion of chromosome 6p: Delineation of the syndrome

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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Veröffentlicht in:American journal of medical genetics 1991-05, Vol.39 (2), p.155-160
Hauptverfasser: Palmer, Catherine G., Bader, Patricia, Slovak, Marilyn L., Comings, David E., Pettenati, Mark J.
Format: Artikel
Sprache:eng
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Zusammenfassung: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, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320390208