Translated title of the contribution: Trisomy 4p

M. O. Rethore, B. Dutrillaux, G. Giovannelli, A. Forabosco, B. Dallapiccola, J. Lejeune

Research output: Contribution to journalArticlepeer-review


Seven observations of trisomy 4p due to a balanced parental rearrangement allow a description of the syndrome, as follows. Craniofacial abnormalities include microcephaly, protruding glabella, hypoplasia of the nasal bones and a rounded nose tip, low set ears, broadening of the concha and helix, protruding anthelices, large tongue, protruding chin, and short neck. Chest and skeletal malformations consist of widely spaced nipples, abnormal vertebral and pelvic stance, hypoplastic ribs and limb abnormalities. Dermatoglyphics show elevation of the axial triradius in position t', decrease of the transversality index and an excess of whorls on the fingertips. The general condition is one of severe mental deficiency and general hypotrophy. The comparison of the 4p- and 4p trisomy syndromes shows that certain features are opposed as 'type and contratype'.

Translated title of the contributionTrisomy 4p
Original languageFrench
Pages (from-to)125-128
Number of pages4
JournalAnnales de Genetique
Issue number2
Publication statusPublished - 1974

ASJC Scopus subject areas

  • Genetics


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