De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

C Battisti; M C Bonaglia; S Giglio; C Anichini; L Pucci; M T Dotti; O Zuffardi; A Federico

doi:10.1002/ajmg.a.10149

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

Am J Med Genet A. 2003 Mar 15;117A(3):207-11. doi: 10.1002/ajmg.a.10149.

Authors

C Battisti¹, M C Bonaglia, S Giglio, C Anichini, L Pucci, M T Dotti, O Zuffardi, A Federico

Affiliation

¹ O.U. of Neurometabolic Diseases, Policlinico Le Scotte, Research Center for Diagnosis, Therapy and Prevention of Neurohandicap, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

PMID: 12599183
DOI: 10.1002/ajmg.a.10149

Abstract

A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Bone and Bones / abnormalities*
Child
Chromosomes, Human, Pair 13 / genetics
Chromosomes, Human, Pair 18 / genetics
Chromosomes, Human, Pair 3 / genetics
Chromosomes, Human, Pair 4 / genetics
Chromosomes, Human, Pair 8 / genetics
Fingers / abnormalities
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / pathology*
Male
Translocation, Genetic*