Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p.

Abstract

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.

• Authors: C Goumy, A M Beaufrère, A Tchirkov, L Gouas, F Gaspard, M Giollant, T Roucaute, L Veronèse, D Lemery, P Vago
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 28 Issue 2 Pg. 131-4 (Feb 2008) ISSN: 0197-3851 [Print] England
• PMID: 18236428 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Abortion, Therapeutic
• Adult
• Amniocentesis
• Chromosomes, Human, Pair 3 (genetics)
• Chromosomes, Human, Pair 5 (genetics)
• Congenital Abnormalities (genetics)
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Nucleic Acid Hybridization
• Phenotype
• Pregnancy
• Syndrome
• Translocation, Genetic (genetics)
• Trisomy
• Ultrasonography, Prenatal