Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.
BACKGROUND
We report on a fetus with radiographic features of Larsen Syndrome (LS) and unbalanced 3;5 translocation. Recently LS was shown to be caused by mutations in FLNB gene which maps on 3p14.3.


METHODS
Comparative genomic hybridization (CGH) was performed to search for genomic imbalances. Fluorescence in situ analysis (FISH) was done with BAC clone RP11-754F19 probe from the FLNB gene region (3p14.3).


RESULTS
CGH showed a large loss of the chromosome 5 short arm and a gain of half of the short arm of chromosome 3 resulting from a derivative chromosome 5. FISH analysis with FLNB probe demonstrated that it was not triplicated. Thus, we excluded the role of a gene dosage effect of FLNB in abnormal craniofacial development in this fetus.


CONCLUSIONS
To our knowledge, this is the first report of Larsen-like phenotype associated with unbalanced translocation resulting in partial trisomy 3p and monosomy 5p.
Goumy
C
C
Univ Clermont1, UFR Médecine, CHU Clermont-Ferrand, Service de Cytogénétique Médicale, France.
Beaufrère
A M
AM
Tchirkov
A
A
Gouas
L
L
Gaspard
F
F
Giollant
M
M
Roucaute
T
T
Veronèse
L
L
Lemery
D
D
Vago
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000032:Abortion, Therapeutic; D000328:Adult; D000649:Amniocentesis; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy; D016216:Ultrasonography, Prenatal