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 journalArticle

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.

Original languageFrench
Pages (from-to)96
Number of pages1
JournalJournal de Genetique Humaine
Volume23
Issue numbersup
Publication statusPublished - 1975

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ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Crisalli, M., Monteverde, R., Bonioli, E., & Vianello, M. G. (1975). UN NOUVEAU CAS DE TRISOMIE 4p PARTIELLE. Journal de Genetique Humaine, 23(sup), 96.