𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trisomy 13 in the child of two carriers of a 13/15 translocation

✍ Scribed by Mori, M. A. ;Huertas, H. ;Pinel, I. ;Giralt, P. ;Martínez-Frías, M. L. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
165 KB
Volume
20
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The origin of trisomy 13
The origin of trisomy 13
✍ Heather E. Hall; E. Ricky Chan; Andrew Collins; LuAnn Judis; Sofia Shirley; Urva 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB
Two forms of ring 13 in a child with rha
Two forms of ring 13 in a child with rhabdomyosarcoma
✍ Voullaire, Lucille E. ;Petrovic, Vida ;Sheffield, Leslie J. ;Campbell, Peter 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 403 KB

Mosaicism for two forms of ring 13 was found in a child with embryonal rhabdomyosarcoma of the bladder, minor anomalies, and developmental delay. Her chromosome constitution was 46,XX,r(13Mpllq34)/46,XX,r de1(13)(pllq14). Both cell lines were present in lymphocytes and fibroblasts. The cell line wit

Segregation of digital number with parti
Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation
✍ M. Rodríguez de Alba; R. Sanz; I. Lorda-Sanchez; J. M. Fernández-Moya; C. Ayuso; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 1 views

It has been postulated that the deletion of band 13q32 may be associated with digital malformations, especially thumb and big toe anomalies. We report a family where the mother is carrying a balanced translocation between chromosomes 5p15 and 13q22. The offspring have a specific and well-defined phe

Screening of subtelomeric rearrangements
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation
✍ Maria Antonietta Di Bella; Francesco Calì; Gregorio Seidita; Mario Mirisola; Ang 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 1 views

## Abstract Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardat