title: 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
abstract: We report on a 9-month old boy carrying a 21 Mb de novo 13q interstitial deletion. The imbalance was detected by chromosomal analysis and investigated by Fluorescence In Situ Hybridization (FISH) and Comparative Genomic Hybridization (array-CGH) using two different platforms: a BAC microarray with 516 kb resolution (Cytochip) and a 15 kb resolution oligonucleotide microarray (Agilent 244K). The deletion has been estimated to span 21.46 Mb on chromosomal bands 13q22.2-13q32.1. The patient has mild/moderate psychomotor retardation, growth hormone insufficiency, hypertelorism, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features. Further investigation revealed that the abnormality is de novo and causative of the patient's phenotype. The described patient is unique among similar rare cases with different deletion breakpoints. It is the first case of 13q22.2q32.1 deletion where the breakpoints are clearly defined, indicating the importance of detailed clinical description and high-resolution genomic analysis for characterization of rare genetic syndromes.
authors.affiliation: Alexandra Hospital, Department of Genetics, Athens, Greece.
authors.forename: Panagiota
authors.initials: P
authors.lastname: Grigori
authors.forename: Elena
authors.initials: E
authors.lastname: Panayiotou
authors.forename: Carolina
authors.initials: C
authors.lastname: Sismani
authors.forename: George
authors.initials: G
authors.lastname: Koumbaris
authors.forename: Marios
authors.initials: M
authors.lastname: Ioannides
authors.forename: Christos
authors.initials: C
authors.lastname: Costalos
authors.forename: Zoe
authors.initials: Z
authors.lastname: Kosmaidou-Aravidou
authors.forename: Ludmila
authors.initials: L
authors.lastname: Kousoulidou
authors.forename: Philippos C
authors.initials: PC
authors.lastname: Patsalis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004423:Ear / Q000002:abnormalities; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008844:Micrognathism / Q000473:pathology; D009123:Muscle Hypotonia / Q000473:pathology; D009333:Neck / Q000002:abnormalities; D011596:Psychomotor Disorders / Q000473:pathology
chemical_list: D013006:Growth Hormone