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 hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.
Battisti
C
C
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.
Bonaglia
M C
MC
Giglio
S
S
Anichini
C
C
Pucci
L
L
Dotti
M T
MT
Zuffardi
O
O
Federico
A
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D014178:Translocation, Genetic