✦ LIBER ✦

Translocation mosaicism in a woman having multiple miscarriages

✍ Scribed by Sciorra, Leonard J. ;Lee, Ming-Liang ;Cuccurullo, Gail ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1985
Tongue: English
Weight: 188 KB
Volume: 22
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320220321

No coin nor oath required. For personal study only.

✦ Synopsis

We concluded cytogenetic studies on a couple who had had several spontaneous abortions. The peripheral lymphocytes of the woman repeatedly showed a mosaic pattern with a structurally altered, apparently balanced, autosomal translocation between chromosomes 4 and 5. Various studies were reviewed and it was concluded that the true frequency of structural rearranged mosaics in recurrent pregnancy loss is not known.

📜 SIMILAR VOLUMES

Complex chromosomal rearrangement in a w

Complex chromosomal rearrangement in a woman with multiple miscarriages

✍ Kausch, Katrin ;Haaf, Thomas ;Köhler, Julia ;Schmid, Michael ;Neri, Giovanni ;Re 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 392 KB 👁 2 views

Trisomy 18 mosaicism in a woman with nor

Trisomy 18 mosaicism in a woman with normal intelligence

✍ Bettio, D. ;Setti, P. Levi ;Bianchi, P. ;Grazioli, V. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

Abnormal phenotype in a child with a “ba

Abnormal phenotype in a child with a “balanced” translocation 8/12 in mosaic state

✍ Saura, R. ;Longy, M. ;Serville, F. ;Chokairi, O. ;Froute, M. F. ;Neri, Giovanni 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 134 KB 👁 2 views

Multiple congenital anomalies in a man w

Multiple congenital anomalies in a man with (X;6) translocation

✍ Sivak, Louise E. ;Esbenshade, John ;Brothman, Arthur R. ;Issa, Bonnie ;Lemons, R 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 409 KB 👁 2 views

X;autosome translocations in humans, often associated with congenital anomalies or with gonadal dysgenesis syndromes, are informative for the study of X-linked gene expression and of the phenomenon of X chromosome inactivation. When such translocations occur in association with multiple congenital a

Trisomy 12 mosaicism confirmed in multip

Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child

✍ DeLozier-Blanchet, C. Dawn ;Roeder, Elizabeth ;Denis-Arrue, Riccardo ;Blouin, Je 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 1 views

This patient, in whom trisomy 12 mosaicism was confirmed in multiple organs, is the fifth case diagnosed postnatally and the first reported for whom a meiotic origin of the trisomy, maternal meiosis I, was determined. Mosaic aneuploidy was suspected because of pigmentary dysplasia, a frequent but no

Multiple intestinal malignancies and pro

Multiple intestinal malignancies and prolonged survival in a young woman

✍ E. Thomas; P. Hall; I. G. Hislop 📂 Article 📅 1974 🏛 John Wiley and Sons 🌐 English ⚖ 345 KB