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

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

Journal: American journal of medical genetics. Part A 2005;135(3):304-7

PMID: 15887269

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.

Address: Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. [email protected]

DOI: 10.1002/ajmg.a.30727

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https://doi.org/10.1002/ajmg.a.30727

MeSH Terms: Abnormalities, Multiple, Child, Preschool, Chromatids, Chromosome Deletion, Chromosomes, Human, Pair 18, Developmental Disabilities, Face, Family Health, Fathers, Female, Humans, Karyotyping, Male, Mental Disorders, Monosomy, Pedigree