Abstract
1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.
Highlights
Case presentationsElena-Silvia SHELBY1, Tanser HUSEYINOGLU2, Georgeta CARDOS2, Liliana PADURE1,3, Andrada MIREA1,3, Madalina LEANCA1, Mihaela BADINA1, Nadejda BARLADEANU4, Florina Mihaela NEDELEA2,4 1 „Dr Nicolae Robănescu“ National Clinical Center for Children’s Neurorecovery, Bucharest, Romania 2 „Filantropia“ Clinical Hospital of Obstetrics and Gynaecology, Bucharest, Romania 3 Faculty of Midwifery and Nursing, „Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania 4 Medical Genetics Chair, „Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania
With a prevalence below one in a million cases, this syndrome is very rare and, often passes undiagnosed
Regarding the effect of the ZBTB18 haploinsufficiency on the 1q44 microdeletion syndrome phenotype, a study by Cohen et al from 2016 (13) on five unrelated patients with intellectual disability and variable syndromic features showed that all patients with mutations in this gene had hypoplasia of the corpus callosum and global development delay or intellectual disability
Summary
Elena-Silvia SHELBY1, Tanser HUSEYINOGLU2, Georgeta CARDOS2, Liliana PADURE1,3, Andrada MIREA1,3, Madalina LEANCA1, Mihaela BADINA1, Nadejda BARLADEANU4, Florina Mihaela NEDELEA2,4 1 „Dr Nicolae Robănescu“ National Clinical Center for Children’s Neurorecovery, Bucharest, Romania 2 „Filantropia“ Clinical Hospital of Obstetrics and Gynaecology, Bucharest, Romania 3 Faculty of Midwifery and Nursing, „Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania 4 Medical Genetics Chair, „Carol Davila“ University of Medicine and Pharmacy, Bucharest, Romania
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