title: Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.
abstract: A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral clefting, single central incisor and mild developmental delay. The girl's anomalies were compared with: (A) one boy reported by each of Der Kaloustian et al. [2011] and Tanteles et al. [2011] with similar, albeit smaller, 2.1 to 2.9 Mb deletions in which the abnormalities consisted of mild facial dysmorphism, mild malformations of the fingers and/or toes, and developmental delay; (B) one girl reported by Friedman et al. [2006] with similar, albeit larger, 5.7 Mb deletion with mild developmental delay and haematological abnormalities; (C) one girl reported by Slee et al. [1991] with a deletion of band q12.2 in chromosome 13, who had Moebius syndrome with facial dysmorphism, high arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all had dysmorphic features and developmental delay plus a spectrum of clinical manifestations including deafness, ataxia/oculomotor apraxia, spasticity, small testes, and mild fingers' anomalies. The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome.
authors.affiliation: Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Silvana
authors.initials: S
authors.lastname: Briuglia
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Amiel
authors.initials: A
authors.lastname: Warm
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Andrea D
authors.initials: AD
authors.lastname: Praticò
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002754:Choanal Atresia; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D055028:Comparative Genomic Hybridization; D000072259:Connexin 26; D017630:Connexins; D005260:Female; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D010641:Phenotype
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26
keywords: 13q12.11-13q12.13; FGF9; clinodactyly; deletion, choanal atresia; hydrocephalus; micrognathia; pre-axial hexadactyly; single central incisor; syndactyly