PMID- 18777129
OWN - NLM
STAT- MEDLINE
DCOM- 20081118
LR  - 20220331
IS  - 1432-1203 (Electronic)
IS  - 0340-6717 (Linking)
VI  - 124
IP  - 4
DP  - 2008 Nov
TI  - Partial 5p monosomy or trisomy in 11 patients from a family with a 
      t(5;15)(p13.3;p12) translocation.
PG  - 387-92
LID - 10.1007/s00439-008-0557-x [doi]
AB  - A family with six alive patients with partial monosomy 5p and five with partial 
      trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. The 
      translocation was present in four generations with eight balanced carriers. This 
      is the first molecular-cytogenetic and clinical study with both syndromes present 
      in the same family. Using fluorescence in situ hybridization (FISH) with 
      bacterial artificial chromosome (BAC) probes, the breakpoint was mapped to 
      5p13.3, in the interval corresponding to the BAC clone RP11-1079N14, thereof 
      resulting a 5pter-5p13.3 deletion or duplication of approximately 32 Mb. These 
      chromosome imbalances can be considered pure, since the other imbalance produced 
      involving chromosome 15p has no phenotypic effect. The presence of several 
      individuals with 5p monosomy and 5p trisomy in the same family is valuable for a 
      better delineation of both syndromes.
FAU - de Carvalho, Acacia Fernandes Lacerda
AU  - de Carvalho AF
AD  - Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Rua 
      Botucatu 740, CEP 04023-900, Sao Paulo, SP, Brazil.
FAU - da Silva Bellucco, Fernanda Teixeira
AU  - da Silva Bellucco FT
FAU - Kulikowski, Leslie Domenici
AU  - Kulikowski LD
FAU - Toralles, Maria Betania Pereira
AU  - Toralles MB
FAU - Melaragno, Maria Isabel
AU  - Melaragno MI
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080907
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Abnormalities, Multiple/diagnosis/*genetics
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Translocation, Genetic/*genetics
MH  - Trisomy/*genetics
EDAT- 2008/09/09 09:00
MHDA- 2008/11/19 09:00
CRDT- 2008/09/09 09:00
PHST- 2008/07/31 00:00 [received]
PHST- 2008/09/01 00:00 [accepted]
PHST- 2008/09/09 09:00 [pubmed]
PHST- 2008/11/19 09:00 [medline]
PHST- 2008/09/09 09:00 [entrez]
AID - 10.1007/s00439-008-0557-x [doi]
PST - ppublish
SO  - Hum Genet. 2008 Nov;124(4):387-92. doi: 10.1007/s00439-008-0557-x. Epub 2008 Sep 
      7.