[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization]. 2013

G Á Martos-Moreno, and C Campos, and R Flores, and R Yturriaga, and L A Pérez-Jurado, and J Argente
Servicios de Pediatría y Endocrinología, Instituto de Investigación La Princesa, Hospital Infantil Universitario Niño Jesús, Madrid, España; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, España; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, España.

We present a case of hematopoietic chimerism in dizygotic twins (male and female) conceived by in vitro fertilization (IVF). At 8 years of age a blood karyotype was performed on the female due to the presence of clitoromegaly. Two different lines: 46,XX (53%) and 46,XY (47%) were found. FISH studies confirmed the presence of the SRY gene in 46,XY cells. Karyotyping of the male showed two different lines: 46,XY (58%) and 46,XX (42%). SRY gene was present in 46,XY cells. Microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. FISH in buccal mucous showed that all cells from the female were 46,XX and those from the male 46,XY. The gonadal karyotype in the female was 46,XX without SRY. Hence, we report 46,XX/46,XY chimerism in dizygotic twins. Blood chimerism was confirmed by performing FISH on the buccal cells of the patients.

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D001773 Blood Cells The cells found in the body fluid circulating throughout the CARDIOVASCULAR SYSTEM. Blood Corpuscles,Blood Cell,Blood Corpuscle,Cell, Blood,Cells, Blood,Corpuscle, Blood,Corpuscles, Blood
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002987 Clitoris An erectile structure homologous with the penis, situated beneath the anterior labial commissure, partially hidden between the anterior ends of the labia minora.
D005260 Female Females
D005307 Fertilization in Vitro An assisted reproductive technique that includes the direct handling and manipulation of oocytes and sperm to achieve fertilization in vitro. Test-Tube Fertilization,Fertilizations in Vitro,In Vitro Fertilization,Test-Tube Babies,Babies, Test-Tube,Baby, Test-Tube,Fertilization, Test-Tube,Fertilizations, Test-Tube,In Vitro Fertilizations,Test Tube Babies,Test Tube Fertilization,Test-Tube Baby,Test-Tube Fertilizations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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