Inherited pericentric inversion of a group D (13-15) chromosome.
نویسندگان
چکیده
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
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Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...
متن کاملFamilial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest.
We report on two infertile brothers presenting with severe oligozoospermia or azoospermia. Testicular biopsy was performed on one of them and showed spermatogenic arrest at the level of primary spermatocytes. Both brothers were found to be heterozygous for a pericentric inversion of chromosome 1 (46,XY,inv(1)(p34q23)). The inversion chromosome was inherited through the maternal line, with no in...
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Chromosomal inversions appear to be common in many organisms, but their frequency in humans is not known. Routine human mitotic chromosome studies have shown few pericentric inversions, and meiotic studies, which can reveal pericentric and paracentric inversions, have been less extensively applied to human chromosomes. The evaluation of possible chromosomal inversions has also been limited by n...
متن کاملFamilial pericentric inversion of chromosome 13 resulting in duplication 13q22 to qter.
2 Turleau C, de Grouchy J, Chavin-Colin F, Roubin M. Trisomie 15q distale. Ann Genet (Paris) 1977;20:214-6. 3 Zabel B, Baumann W. Trisomie partielle pour la partie distale du bras long du chromosome 15 par translocation X/15 maternelle. Ann Genet (Paris) 1977;20:285-9. 4 Tzancheva M, Krachounova M, Damjanova Z. Two familial cases with trisomy 15q dist due to a rcp(5;15) (pl4;q21). Hum Genet 198...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 9 1 شماره
صفحات -
تاریخ انتشار 1972