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Article

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype.

American journal of medical genetics. Part A - 1 May 2012

Kvarnung Malin, Lindstrand Anna, Malmgren Helena, Thåström Anders, Jacobson Lena, Dahl Niklas, Lundin Johanna, Blennow Elisabeth

Abstract excerpt

We have studied a family with repeated transmission of mosaicism for a supernumerary marker chromosome (SMC), giving rise to varying symptoms of the cat eye syndrome (CES) in the offspring. The frequency of the SMC was investigated using FISH with probes from the CES critical region on lymphocytes as well as buccal cells. The same probes were used to study the frequency of the SMC in spermatozoa from the father....

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Source

Identifiers

PMID: 22495764
DOI: 10.1002/ajmg.a.35311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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