Lena Samuelsson1, Theofanis Zagoras1, Maria Hafström2. 1. Department of Clinical Genetics, Sahlgrenska University Hospital, Sweden. 2. Department of Pediatrics, Institute of Clinical Sciences, The Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden; Department of Paediatrics, St. Olavs Hospital, Norway; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway. Electronic address: maria.hafstrom@vgregion.se.
Abstract
BACKGROUND: Deletions including chromosome 15q24 have been delineated in recent years as a separate syndrome with phenotypic variability. Here we report a familial 15q24 deletion and further contribute to the phenotypic description of this syndrome. METHODS: Molecular karyotyping and description of the phenotype of three patients in the same family with a 15q24 deletion. RESULTS: Parental transmission of the 15q24 deletion syndrome is described in the same family. The affected, the father and his twin offspring, all exhibit the typical facial features, signs and symptoms consistent with the syndromic phenotype. A distinct phenotypic variability is nevertheless noted although they all share the same deletion. CONCLUSIONS: These three patients are to our knowledge the first described cases of 15q24 syndrome in the same family. Urogenital malformations have previously been described as a part of this syndrome. Our adult male patient exhibits no such malformations but has a documented reduced fertility. This fact points to other factors such as haploinsufficiency of one and/or further genes on 15q24 as being responsible for the infertility. Array analysis could be considered as a first hand analysis in the investigation of cases of infertility and intellectual deficiency in adults in analogy to the existing consensus regarding cases of intellectual deficiency in children.
BACKGROUND: Deletions including chromosome 15q24 have been delineated in recent years as a separate syndrome with phenotypic variability. Here we report a familial 15q24 deletion and further contribute to the phenotypic description of this syndrome. METHODS: Molecular karyotyping and description of the phenotype of three patients in the same family with a 15q24 deletion. RESULTS: Parental transmission of the 15q24 deletion syndrome is described in the same family. The affected, the father and his twin offspring, all exhibit the typical facial features, signs and symptoms consistent with the syndromic phenotype. A distinct phenotypic variability is nevertheless noted although they all share the same deletion. CONCLUSIONS: These three patients are to our knowledge the first described cases of 15q24 syndrome in the same family. Urogenital malformations have previously been described as a part of this syndrome. Our adult male patient exhibits no such malformations but has a documented reduced fertility. This fact points to other factors such as haploinsufficiency of one and/or further genes on 15q24 as being responsible for the infertility. Array analysis could be considered as a first hand analysis in the investigation of cases of infertility and intellectual deficiency in adults in analogy to the existing consensus regarding cases of intellectual deficiency in children.
Authors: Josefine S Witteveen; Marjolein H Willemsen; Thaís C D Dombroski; Nick H M van Bakel; Willy M Nillesen; Josephus A van Hulten; Eric J R Jansen; Dave Verkaik; Hermine E Veenstra-Knol; Conny M A van Ravenswaaij-Arts; Jolien S Klein Wassink-Ruiter; Marie Vincent; Albert David; Cedric Le Caignec; Jolanda Schieving; Christian Gilissen; Nicola Foulds; Patrick Rump; Tim Strom; Kirsten Cremer; Alexander M Zink; Hartmut Engels; Sonja A de Munnik; Jasper E Visser; Han G Brunner; Gerard J M Martens; Rolph Pfundt; Tjitske Kleefstra; Sharon M Kolk Journal: Nat Genet Date: 2016-07-11 Impact factor: 38.330