title: Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion: original case report and review of the literature.
abstract: Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery. The foetal echocardiography suggested a non- compaction of the left ventricular myocardium. No microcephaly or growth retardation were noted. We compare our antenatal findings to those described in the literature with the aim to better define the antenatal phenotype of the terminal chromosome 1 deletion syndrome.
authors.affiliation: Department of Obstetrics and Gynaecology, University of Liège, 4000 Liège, Belgium.
authors.forename: C
authors.initials: C
authors.lastname: Van Linthout
authors.affiliation: Department of Obstetrics and Gynaecology, University of Liège, 4000 Liège, Belgium.
authors.forename: V
authors.initials: V
authors.lastname: Emonard
authors.affiliation: Department of Clinical and Human Genetics, University of Liège, 4000 Liège, Belgium.
authors.forename: J S
authors.initials: JS
authors.lastname: Gatot
authors.affiliation: Department of Obstetrics and Gynaecology, University of Liège, 4000 Liège, Belgium.
authors.forename: X
authors.initials: X
authors.lastname: Capelle
authors.affiliation: Department of Obstetrics and Gynaecology, University of Liège, 4000 Liège, Belgium.
authors.forename: F
authors.initials: F
authors.lastname: Kridelka
authors.affiliation: Department of Obstetrics and Gynaecology, University of Liège, 4000 Liège, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Emonts
authors.affiliation: Department of Paediatrics, University of Liège, 4000 Liège, Belgium.
authors.forename: M C
authors.initials: MC
authors.lastname: Segghaye
keywords: Chromosome 1 deletion; facial dysmorphy; growth retardation; microcephaly; non compaction of myocardium