Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.
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.
Kotzot
Dieter
D
Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. DieterKotzot@gmx.de
Haberlandt
Edda
E
Fauth
Christine
C
Baumgartner
Sara
S
Scholl-Bürgi
Sabine
S
Utermann
Gerd
G
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002842:Chromatids / Q000235:genetics*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005220:Fathers; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D001523:Mental Disorders / Q000473:pathology; D009006:Monosomy; D010375:Pedigree