Multiple Congenital Malformations Including Severe Eye Anomalies and Abnormal Cerebellar Development with Dandy-Walker Malformation in a Girl with Partial Trisomy 3q

Abstract

Purpose: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. Methods: Clinical examination and chromosomal analysis were conducted. Results: The karyotype of the propositus was 46,XX, ins(3)(pter → p25::q27 → q21::p25 → qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. Conclusions: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.