Genome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies.
Genet Couns
; 24(1): 85-91, 2013.
Article
en En
| MEDLINE
| ID: mdl-23610870
Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Región Sacrococcígea
/
Anomalías Múltiples
/
Enfermedades en Gemelos
/
Estudio de Asociación del Genoma Completo
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Female
/
Humans
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Male
/
Pregnancy
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Turquía
Pais de publicación:
Suiza