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

• Published in: American journal of medical genetics. Part A 2014-07, Vol.164A (7), p.1734-1743
• Main Authors: Pavone, Piero, Briuglia, Silvana, Falsaperla, Raffaele, Warm, Amiel, Pavone, Vito, Bernardini, Laura, Novelli, Antonio, Praticò, Andrea D., Salpietro, Vincenzo, Ruggieri, Martino
• Format: Article
• Language: English
• Subjects: 13q12.11-13q12.13; Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Choanal Atresia; Chromosome Deletion; Chromosomes, Human, Pair 13; clinodactyly; Comparative Genomic Hybridization; Connexins; deletion; deletion, choanal atresia; Female; FGF9; Humans; hydrocephalus; Infant; Limb Deformities, Congenital; micrognathia; Phenotype; pre-axial hexadactyly; single central incisor; syndactyly
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36391

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. © 2014 Wiley Periodicals, Inc.