𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trisomy 12p syndrome Evaluation of a family with a t(12;21)(p12.1;p11) translocation with unbalanced offspring

✍ Scribed by I. L. Hansteen; L. Schirmer; S. Hestetun


Book ID
119838627
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
649 KB
Volume
13
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Complex translocation t(9;21)(9;22)(q12p
✍ Bruno Dallapiccola; Giovanni Bollea; Cristina Mazzilli; Enrico Gandini πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 266 KB

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba

Apparent Sotos syndrome (cerebral gigant
✍ Faivre, Laurence; Viot, GοΏ½raldine; Prieur, Marguerite; Turleau, Catherine; Gosse πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

We report on a child with apparent Sotos syndrome (cerebral gigantism) and partial duplication of the short arm of chromosome 20 mosaicism. Trisomy 20p11.2-p12.1 was diagnosed using cytogenetic and FISH studies. The somatostatin receptor 4 (SSTR4) gene is included in the duplicated segment. This sug