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PMID: 631851 Published · ppublish English Case Reports Journal Article

t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.

Human genetics ·Vol. 40 ·No. 3 ·1978-02-16 ·Pages 325-31

Archidiacono N, Rocchi M, de Vonderweid U, Filippi G

Abstract

A case of trisomy 9p originating from t(9/22) mat is reported. The rearrangement is characterized by centric fission of chromosome 9 and by translocation of NOR from chromosome 22 to 9q. The hypothesis of centric fission is discussed on the basis of various banding patterns. The case also reveals unusual knee dislocation.

MeSH Terms
Cell Nucleolus Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Humans Infant Infant, Newborn Joint Dislocations/congenital Karyotyping Knee Joint Male Translocation, Genetic Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Archidiacono N
Rocchi M
de Vonderweid U
Filippi G
References (22)
22 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1978-02-16
Pages
325-31
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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