PMID- 12599183
OWN - NLM
STAT- MEDLINE
DCOM- 20030807
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 117A
IP  - 3
DP  - 2003 Mar 15
TI  - De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation 
      and skeletal abnormalities.
PG  - 207-11
AB  - 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Battisti, C
AU  - Battisti C
AD  - 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.
FAU - Bonaglia, M C
AU  - Bonaglia MC
FAU - Giglio, S
AU  - Giglio S
FAU - Anichini, C
AU  - Anichini C
FAU - Pucci, L
AU  - Pucci L
FAU - Dotti, M T
AU  - Dotti MT
FAU - Zuffardi, O
AU  - Zuffardi O
FAU - Federico, A
AU  - Federico A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics/pathology
MH  - Bone and Bones/*abnormalities
MH  - Child
MH  - Chromosomes, Human, Pair 13/genetics
MH  - Chromosomes, Human, Pair 18/genetics
MH  - Chromosomes, Human, Pair 3/genetics
MH  - Chromosomes, Human, Pair 4/genetics
MH  - Chromosomes, Human, Pair 8/genetics
MH  - Fingers/abnormalities
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*pathology
MH  - Male
MH  - *Translocation, Genetic
EDAT- 2003/02/25 04:00
MHDA- 2003/08/09 05:00
CRDT- 2003/02/25 04:00
PHST- 2003/02/25 04:00 [pubmed]
PHST- 2003/08/09 05:00 [medline]
PHST- 2003/02/25 04:00 [entrez]
AID - 10.1002/ajmg.a.10149 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Mar 15;117A(3):207-11. doi: 10.1002/ajmg.a.10149.