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PMID: 1184398 Published · ppublish English Case Reports Journal Article

Trisomy of the distal third of the long arm of chromosome 10. Report of a new case due to a familial translocation t(10;18) (q24;p11).

Helvetica paediatrica acta ·Vol. 30 ·No. 3 ·1975-10-00 ·Pages 289-95

Forabosco A, Bernasconi S, Giovannelli G, Dutrillaux B

Abstract

A new case of trisomy of the distal third of the long arm of chromosome 10 due to familial translocation t(10;18) (q24;p11) is described. The main clinical and radiological signs may be summarized as follows: growth at lower limits of normal; poor facial expression; round, flat face with high, broad forehead, fine, highly arched eyebrows, pseudohyperthelorism, microphthalmia, flat, broad bridged nose, hypoplasia of the bony structures of the central area of the face, "fish mouth", macroglossia, micrognathia; short neck; marked dextroconvex lumbar scoliosis; psychomotor delay of mild degree; selective, more pronounced speech delay. Our observation confirms the suggestion by Yunis and Sanchez that a clinical syndrome corresponds to this chromosomal alteration. However, some interesting differences from the previously reported cases, i.e., the absence of microcephaly and of severe impairment of growth and psychomotor development induce us to establish a more favorable prognosis in our case.

MeSH Terms
Abnormalities, Multiple/genetics Child, Preschool Chromosome Aberrations Chromosomes, Human, 16-18 Chromosomes, Human, 6-12 and X Face/abnormalities Humans Karyotyping Male Microcephaly/genetics Phenotype Psychomotor Disorders/genetics Scoliosis/genetics Translocation, Genetic Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Forabosco A
Bernasconi S
Giovannelli G
Dutrillaux B
Article Info
Journal
Helvetica paediatrica acta
Abbr.
Helv Paediatr Acta
ISSN
0018-022X
Published
1975-10-00
Pages
289-95
Language
English
Region
Switzerland
NLM ID
0373005
Subset
IM
External Links
PubMed source
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