[17p trisomy].

Abstract

Trisomy 17p resulting from a parental translocation t(10;17)(q26.3;p11) was observed in a 22-month-old boy. Analysis of five cases of trisomy 17p from the literature indicates a common malformation pattern: microcephaly, excessive development of the median part of the frontal region, mandibular hypoplasia, permanent opening of the mouth, a high-arched palate, a short, webbed neck, hypotonia, growth retardation, and severe mental retardation. Three abnormal features emphasized by the authors are permanent myosis due to a structural anomaly of the iris; an unusually low blood folate concentration; and an unusual hand configuration, the first four fingers flexed and the little finger extended.

• Authors: M O Rethoré, F Renault, J Lafourcade, C Supeira, J P Padovani, J Lejeune
• Journal: La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris (Sem Hop) Vol. 59 Issue 27-28 Pg. 2039-42 (Jul 07 1983) France
• Vernacular Title: La trisomie 17p.
• PMID: 6312571 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Chromosomes, Human, 16-18
• Humans
• Infant, Newborn
• Male
• Pedigree
• Trisomy