𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trisomy 8 mosaicism

✍ Scribed by G. Kosztolànyi; E. M. Bühler; P. Elmiger; G. R. Stalder

Book ID
104776885
Publisher
Springer
Year
1976
Tongue
English
Weight
907 KB
Volume
123
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.

✦ Synopsis

A 16-year-old boy with trisomy 8 mosaieism is presented. Increased birth weight, delayed psyehomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations from the fibroblast cultures between 1962 and 1973, but has disappeared from the lymphocyte culture.

The clinical picture of this case is compared with the leading clinical signs and symptoms of the 25 cases with eonfiruled trisomy 8 so far published. A scheme is proposed in order to keep in mind the clinical picture suggesting trisomy 8.

📜 SIMILAR VOLUMES

Trisomy-8 mosaicism: Report of a case
Trisomy-8 mosaicism: Report of a case
✍ Margherita Cirillo Silengo; Gianfranco Davi; Giorgio Crua; Piergiorgio Francesch 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 186 KB

An 8-year-old male with mental retardation, speech difficulties, and minor congenital anomalies is presented. The clinical findings suggest the trisomy-8 syndrome. The karyotype indicates trisomy-8 mosaicism with trisomic as well as normal cell lines in blood lymphocytes.

Trisomy 8 mosaicism in a with patient te
Trisomy 8 mosaicism in a with patient tetraamelia
✍ G�tze, Annemarie; Krebs, Petra; Stumm, Markus; Wieacker, Peter; Allhoff, Ernst P 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

## Trisomy 8 Mosaicism in a Patient With Tetraamelia To the Editor: Trisomy 8 is detected in 0.8% of spontaneous abortions . In neoplasias, especially in myeloid leukaemias, trisomy 8 is a frequent somatic aberration . In liveborn infants trisomy 8 almost always is a mosaic condition. The frequen

Trisomy 8 mosaicism in a patient with he
Trisomy 8 mosaicism in a patient with heterotaxia
✍ Fowzan S. Alkuraya; David J. Harris 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 1 views

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but

Trisomy 14 mosaicism syndrome
Trisomy 14 mosaicism syndrome
✍ Lipson, Mark H. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 254 KB 👁 1 views