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PMID: 711239 Published · ppublish English Case Reports Journal Article

Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Contribution to further delineation of a new syndrome.

Human genetics ·Vol. 44 ·No. 1 ·1978-10-19 ·Pages 59-69

Nielsen KB, Dyggve H, Friedrich U, Hobolth N, Lyngbye T, Mikkelsen M

Abstract

Five mentally retarded male patients with a supernumerary small metacentric nonsatellited chromosome were found to have many clinical features in common. The face showed characteristic small crowded features, the bodily habitus was asthenic, and the hands and feet had minor abnormalities. Renal anomalies were present in two patients. One patient had a myelomeningocele. Cytogenetic studies employing Q, R, and C banding in four patients showed the small extra chromosome to have staining properties compatible with an isochromosome of the short arm of chromosome 18. A comparison with previous case reports suggests a new syndrome. However, the identity of the extra chromosome has not yet been determined.

MeSH Terms
Adolescent Child Child, Preschool Chromosome Banding Chromosomes, Human, 16-18/ultrastructure Foot Deformities, Congenital Hand Deformities, Congenital Humans Intellectual Disability/genetics Karyotyping Male Pedigree Somatotypes Trisomy
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Nielsen K B
Dyggve H
Friedrich U
Hobolth N
Lyngbye T
Mikkelsen M
References (39)
39 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00283575
Published
1978-10-19
Pages
59-69
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00283575 View journal details
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