A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.
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.
Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, 2370 Nicosia, Cyprus.
Carolina
0000-0002-9296-8347
C
Sismani
Department of Genetics and Molecular Biology, General, Maternity, and Pediatric Clinic Mitera, Erythrou Stavrou 6, 15123 Athens, Greece.
Georgia
G
Christopoulou
Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, 2370 Nicosia, Cyprus.
Angelos
0000-0001-8418-7690
A
Alexandrou
Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dometios, 2370 Nicosia, Cyprus.
Paola
0000-0001-5565-0666
P
Evangelidou
Department of Genetics and Molecular Biology, General, Maternity, and Pediatric Clinic Mitera, Erythrou Stavrou 6, 15123 Athens, Greece.
Jacqueline
J
Donoghue
Department of Pathology, Medical School, University of Athens, Mikras Assias 75, 11527 Athens, Greece.
Anastasia E
AE
Konstantinidou
Department of Genetics and Molecular Biology, General, Maternity, and Pediatric Clinic Mitera, Erythrou Stavrou 6, 15123 Athens, Greece.
Voula
V
Velissariou