UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE

Translated title of the contribution: A new case of partial trisomy 4p

M. Crisalli, R. Monteverde, E. Bonioli, M. G. Vianello

Research output: Contribution to journalArticlepeer-review

Abstract

A karyotype 46,XX dup(4) (p15 p16) has been seen in a girl with mental debility, hypotrophic height and weight, and a dysmorphic syndrome, the most salient symptoms of which are: microcephaly, bulging forehead, macrostomia, very hypoplasic mandible with a very obtuse postero inferior angle; cylindrical thorax, hypoplasic pelvis, 13 ribs and anomalies of the extremities. The chromosomes of the parents are normal.

Translated title of the contributionA new case of partial trisomy 4p
Original languageFrench
Pages (from-to)96
Number of pages1
JournalJournal de Genetique Humaine
Volume23
Issue numbersup
Publication statusPublished - 1975

ASJC Scopus subject areas

  • Genetics(clinical)

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