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Review
. 2005 Jun 15;135(3):304-7.
doi: 10.1002/ajmg.a.30727.

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Dieter Kotzot  1 , Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi, Gerd Utermann
Affiliations
Review

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Dieter Kotzot et al. Am J Med Genet A. .

Abstract

Monosomy of 18q12.3 has been reported in only 16 cases, in one as a mosaic with a normal cell line. Abnormal behaviour, developmental delay, normal measurements, and minor facial anomalies including ptosis, bilateral epicanthus, strabismus, short and slightly down-slanting palpebral fissures, and full cheeks are characteristic manifestations. We report on a 26-month-old girl with del(18)(q12.2q21.1) and typical phenotype. Microsatellite mediated haplotype analysis showed approximately 12 Mb deletion and demonstrated that the deletion was most likely formed during paternal meiosis by a rearrangement between the grandpaternal sister chromatids.

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