Prenatal diagnosis of a terminal chromosome 1 (q42-q44) deletion : original case report and review of the literature

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 noncompaction
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.