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. Fluo...

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Veröffentlicht in:	Prenatal diagnosis 2008-02, Vol.28 (2), p.131-134
Hauptverfasser:	Goumy, C., Beaufrère, A. M., Tchirkov, A., Gouas, L., Gaspard, F., Giollant, M., Roucaute, T., Veronèse, L., Lemery, D., Vago, P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abortion, Therapeutic Adult Amniocentesis Biological and medical sciences CGH Chromosomes, Human, Pair 3 - genetics Chromosomes, Human, Pair 5 - genetics Congenital Abnormalities - genetics Delivery. Postpartum. Lactation Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Gynecology. Andrology. Obstetrics Humans Infant, Newborn Karyotyping Larsen-like syndrome Medical sciences Molecular and cellular biology Nucleic Acid Hybridization Phenotype Pregnancy Syndrome Translocation, Genetic - genetics Trisomy trisomy 3p/monosomy 5p Ultrasonography, Prenatal
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