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

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 hybridizatio...

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Bibliographic Details
Published in:American journal of medical genetics 2003-03, Vol.117A (3), p.207-211
Main Authors: Battisti, C., Bonaglia, M.C., Giglio, S., Anichini, C., Pucci, L., Dotti, M.T., Zuffardi, O., Federico, A.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
axillary pterigium
Biological and medical sciences
Bone and Bones - abnormalities
camptodactily
Child
Chromosome aberrations
chromosome rearrangements
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
Medical genetics
Medical sciences
mental retardation
Translocation, Genetic
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Summary: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. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.10149