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PMID: 7081295 Published · ppublish English Case Reports Journal Article

Brief clinical report: the dup(17p) syndrome.

American journal of medical genetics ·Vol. 11 ·No. 3 ·1982-03-00 ·Pages 299-304

Feldman GM, Baumer JG, Sparkes RS

Abstract

In a 42-month-old girl a duplicated 17p chromosome anomaly was identified by trypsin-Giemsa banding techniques. The clinical findings are compared with those of previous case reports. Common phenotypics changes include failure to thrive; hypoplastic, apparently low-set ears; micrognathia; flexion abnormalities of fingers; and foot abnormalities.

MeSH Terms
Abnormalities, Multiple/genetics Child, Preschool Chromosome Aberrations/genetics Chromosome Banding Chromosome Disorders Chromosomes, Human, 16-18/ultrastructure Female Growth Disorders/complications Humans Intellectual Disability/genetics Karyotyping Pedigree Syndrome Translocation, Genetic
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Feldman G M
Baumer J G
Sparkes R S
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1982-03-00
Pages
299-304
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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