Partial duplication of 17p. A new chromosomal syndrome.

Human genetics ·Vol. 49 ·No. 2 ·1979-06-19 ·Pages 123-7

Bartsch-Sandhoff M, Hieronimi G

Abstract

An inherited partial duplication syndrome of 17p is described. A comparison of the symptoms of a de novo partial duplication of 17p (Latta and Hoo, 1974) and those of our own case seems to indicate a characteristic syndrome. The main features include a small-for-date baby born at full term, small stature, microcephaly, typical facial changes, a heart defect, contractures of different joints, and deformities of the feet. The patients show severe motor and mental retardation.

MeSH Terms

Abnormalities, Multiple/genetics Chromosome Aberrations Chromosomes, Human, 16-18 Face/abnormalities Humans Infant Intellectual Disability/genetics Karyotyping Male Phenotype Syndrome

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Bartsch-Sandhoff M

Hieronimi G

References (3)

3 references, click to expand

Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter).
Ann Genet. 1977 Dec;20(4):281-4 PMID: 305758
[A new technic of analysis of the human karyotype].
C R Acad Sci Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40 PMID: 4104656
Trisomy of the short arm of chromosome 17.
Humangenetik. 1974;23(3):213-7 PMID: 4135958

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00277633

Published

1979-06-19

Pages

123-7

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00277633 View journal details

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Partial duplication of 17p. A new chromosomal syndrome.

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