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Review
. 2021 Aug;17(4):438-448.
doi: 10.1007/s12519-021-00438-9. Epub 2021 Jul 14.

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

Daniela Hainz  1   2 , Marcus Krüger  2 , Daniela Reber  2 , Karl Mehnert  3 , Theresa Brunet  1 , Gabriele Lederer  1 , Sabine Langer-Freitag  1 , Julia Hoefele  4
Affiliations
Review

Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature

Daniela Hainz et al. World J Pediatr. 2021 Aug.
No abstract available

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Fig. 1
Fig. 1
Detailed view profile (array-CGH) of chromosome 12 showing the trisomy 12 mosaicism. X-axis, chromosome 12 ideogram from p (left side) to q arm (right side); Y-axis, intensity
Fig. 2
Fig. 2
Fluorescence in situ hybridization images of metaphase (a) and interphase (b) of chromosome 12p subtelomeres (spectrum orange: 12q; spectrum green: 12p; both from Abbott) of lymphocytes showing a regular karyotype (a) and trisomy 12 (b)
Fig. 3
Fig. 3
Facial dysmorphic features include prominent forehead, ptosis, epicanthus, left missing upper eyelid crease, broad flat nasal bridge, low-set ears and prominent cheeks. Parents gave consent for publishing the photograph of the case
See this image and copyright information in PMC

References

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    1. Hong B, Zunich J, Openshaw A, Toydemir RM. Clinical features of trisomy 12 mosaicism-Report and review. Am J Med Genet A. 2017;173:1681–1686. doi: 10.1002/ajmg.a.38194. - DOI - PubMed
    1. English CJ, Goodship JA, Jackson A, Lowry M, Wolstenholme J. Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development. J Med Genet. 1994;31:253–254. doi: 10.1136/jmg.31.3.253. - DOI - PMC - PubMed
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