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PMID: 2425620 Published · ppublish English Case Reports Journal Article

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

American journal of medical genetics ·Vol. 24 ·No. 3 ·1986-07-00 ·Pages 415-20

Magenis RE, Brown MG, Allen L, Reiss J

Abstract

Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.

MeSH Terms
Calcaneus/abnormalities Child, Preschool Chromosome Aberrations Chromosome Banding Chromosomes, Human, 16-18 Developmental Disabilities/genetics Facial Expression Female Humans Intellectual Disability/genetics
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Magenis R E
Brown M G
Allen L
Reiss J
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
1986-07-00
Pages
415-20
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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