𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Monosomy and trisomy of 15q24→qter in a family with a translocation t(6;15)(P25;q24)

✍ Scribed by Ulf Kristoffersson; Sverre Heim; Nils Mandahl; Lennart Sundkvist; Jan Szelest; Inga Hägerstrand

Book ID
115089680
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
184 KB
Volume
32
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Congenital diaphragmatic hernia in a fam
Congenital diaphragmatic hernia in a family segregating a reciprocal translocation t(5;15)(p15.3;q24)
✍ Aviram-Goldring, Ayala; Daniely, Michal; Frydman, Moshe; Shneyour, Yona; Cohen, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

Congenital diaphragmatic hernia (CDH) is a relatively common malformation of unknown cause with high mortality due to hypoplasia of the lungs and pulmonary hypertension. We studied a family in which two fetuses had CDH, and two pregnancies resulted in first trimester missed abortions. Both fetuses w

Subtelomeric 6p monosomy and 12q trisomy
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome
✍ C. Nur Semerci; Mine Cinbis; Reinhard Ullmann; Anne Steininger; Muhterem Bahce; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 2 views

## Abstract We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay,