Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

• Published in: American journal of medical genetics. Part A Vol. 152A; no. 10; pp. 2595 - 2598
• Main Authors: Razzaghian, Hamid Reza, Shahi, Mehdi Hayat, Forsberg, Lars A., de Ståhl, Teresita Diaz, Absher, Devin, Dahl, Niklas, Westerman, Maxwell P., Dumanski, Jan P.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.10.2010; Wiley-Liss
• Subjects: Anemia, Sickle Cell - genetics; Anemias. Hemoglobinopathies; Aneuploidy; Biological and medical sciences; Chromosome aberrations; chromosome X; chromosome Y; Chromosomes, Human, Pair 18 - genetics; Chromosomes, Human, X - genetics; Chromosomes, Human, Y - genetics; Clinical genetics; copy number variation; Dermatologi och venerologi, klinisk genetik, invärtesmedicin; Dermatology and venerology,clinical genetics, internal medicine; Diseases of red blood cells; Female; Genetic Variation; Genotype; Gynecology. Andrology. Obstetrics; Hematologic and hematopoietic diseases; Heterozygote; Humans; Klinisk genetik; Male; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance; Medical genetics; Medical sciences; MEDICIN; MEDICINE; Medicinsk genetik; Middle Aged; monozygotic twins; sickle cell trait; somatic mosaicism; Turner Syndrome - genetics; Twins, Monozygotic - genetics; Ullrich-Turner syndrome; Chromosomal aberration; Dysgenesia; Sickle cell anemia; Genetic variability; Copy number; sickle cell trait; Variations; Aneuploidy; Somatic cell; Hemopathy; monozygotic twins; chromosome X; chromosome Y; Hemolytic anemia; copy number variation; Gonad; Monozygotic twin; Hemoglobinopathy; Genetic variant; Chromosome; genetic variation; Sexual differentiation disorder; Turner syndrome; Female genital diseases; Genetic disease; Ullrich—Turner syndrome; Malformation; Mosaicism; somatic mosaicism; Mutation
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.33604

Somatic genetic variation in health and disease is poorly explored. Monozygotic (MZ) twins are a suitable model for studies of somatic mosaicism since genetic differences in twins derived from the same zygote represent an irrefutable example of somatic variation. We report the analysis of a pair of...