Partial trisomy 10q: a recognizable syndrome.

Abstract

Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bow-shaped mouth, short neck (kypho)scoliosis, and in some cases microcephaly.

• Authors: J M Klep-de Pater, J B Bijlsma, H F de France, N J Leschot, M Duijndam-van den Berge, J O van Hemel
• Journal: Human genetics (Hum Genet) Vol. 46 Issue 1 Pg. 29-40 (Jan 19 1979) ISSN: 0340-6717 [Print] Germany
• PMID: 429004 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Child, Preschool
• Chromosomes, Human, 6-12 and X
• Dermatoglyphics
• Face (abnormalities)
• Female
• Growth Disorders (genetics)
• Humans
• Intellectual Disability (genetics)
• Karyotyping
• Male
• Middle Aged
• Pedigree
• Phenotype
• Syndrome
• Trisomy