A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.

Carolina Sismani,Paola Evangelidou,Voula Velissariou,Angelos Alexandrou,Jacqueline Donoghue,Anastasia E Konstantinidou,Georgia Christopoulou

doi:10.1155/2015/517678

Abstract

Terminal deletions in the long arm of chromosome 1 result in a postnatally recognizable disorder described as 1q43q44 deletion syndrome. The size of the deletions and the resulting phenotype varies among patients. However, some features are common among patients as the chromosomal regions included in the deletions. In the present case, ultrasonography at 22 weeks of gestation revealed choroid plexus cysts (CPCs) and a single umbilical artery (SUA) and therefore amniocentesis was performed. Chromosomal analysis revealed a possible terminal deletion in 1q and high resolution array CGH confirmed the terminal 1q43q44 deletion and estimated the size to be approximately 8 Mb. Following termination of pregnancy, performance of fetopsy allowed further clinical characterization. We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized. In addition, to our knowledge this is the first prenatal case reported with 1q13q44 terminal deletion and Pierre-Robin sequence (PRS). Our findings combined with review data from the literature show the complexity of the genetic basis of the associated syndrome.

Highlights

Pure deletions of distal chromosome 1q result in a recognizable disorder described as 1q43q44 deletion syndrome (OMIM-612337, http://www.omim.org)
We report here a prenatal case with the smallest pure terminal 1q43q44 deletion, that has been molecularly and phenotypically characterized
The case we present in the current study is, to our knowledge, the first prenatal case with the smallest pure 1q43q44 deletion in a female fetus molecularly and phenotypically characterized and the first reported case with an association with Pierre-Robin sequence (PRS)

Summary

Introduction

Pure deletions of distal chromosome 1q result in a recognizable disorder described as 1q43q44 deletion syndrome (OMIM-612337, http://www.omim.org). Most patients share characteristic features such as moderate-to-severe intellectual disability, limited to no speech, dysmorphic facial features including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low set ears. Poor growth, microcephaly, corpus callosum abnormalities (CCA), and seizures are commonly present in these patients. The case we present in the current study is, to our knowledge, the first prenatal case with the smallest pure 1q43q44 deletion in a female fetus molecularly and phenotypically characterized and the first reported case with an association with PRS. The detailed autopsy and genetic analysis results allow further characterization, clinical correlation, and/or genotypephenotype correlation, as well as comparison with previously described prenatal and postnatal cases

Case Report

Discussion