title: 19q13 microdeletion syndrome: Further refining the critical region.
abstract: The 19q13 microdeletion syndrome is a recently identified disorder of which very few cases have been reported so far. Growth deficiency, microcephaly, ectodermal anomalies and intellectual disability are the major features reported in all the described cases. The critical region has been estimated to span 750 Kb. We report an Italian patient carrying a de novo 1.37 Mb deletion in chromosome 19q13, who presented all the cardinal features of the syndrome, and multiple pituitary hormone deficiency. Our findings might contribute to further refine the critical region to 460 Kb and restrict the list of candidate genes.
authors.affiliation: Division of Medical Genetics, Galliera Hospital, Via Volta 6, Genoa, Italy. forzanof@galliera.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Forzano
authors.forename: Flavia
authors.initials: F
authors.lastname: Napoli
authors.forename: Vera
authors.initials: V
authors.lastname: Uliana
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Chiara
authors.initials: C
authors.lastname: Viaggi
authors.forename: Raffaella
authors.initials: R
authors.lastname: Bloise
authors.forename: Domenico
authors.initials: D
authors.lastname: Coviello
authors.forename: Emilio
authors.initials: E
authors.lastname: Di Maria
authors.forename: Irene
authors.initials: I
authors.lastname: Olivieri
authors.forename: Natascia
authors.initials: N
authors.lastname: Di Iorgi
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D013577:Syndrome