✦ LIBER ✦

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

✍ Scribed by Célia P. Koiffmann; Claudette H. Gonzalez; Deise H. Souza; Eliana G. Romani; Chong A. Kim; Anita Wajntal

Book ID: 105120716
Publisher: Springer
Year: 1991
Tongue: English
Weight: 125 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf01213107

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Shwachman syndrome and chromosome breaka

Shwachman syndrome and chromosome breakage

✍ M. Fraccaro; Susi Scappaticci; M. Aricò 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 65 KB

Is Rett syndrome a chromosome breakage s

Is Rett syndrome a chromosome breakage syndrome?

✍ Telvi, Louise ;Leboyer, Marion ;Chiron, Catherine ;Feingold, Josué ;Ponsot, Géra 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 373 KB 👁 2 views

A case of Shwachman syndrome with increa

A case of Shwachman syndrome with increased spontaneous chromosome breakage

✍ H. Tada; T. Ri; H. Yoshida; K. Ishimoto; M. Kaneko; Y. Yamashiro; T. Shinohara 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 269 KB

In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals

Promising therapy results for lymphoid m

Promising therapy results for lymphoid malignancies in children with chromosomal breakage syndromes (Ataxia teleangiectasia or Nijmegen-breakage syndrome): a retrospective survey

✍ Klaus Bienemann; Birgit Burkhardt; Simon Modlich; Ulrike Meyer; Anja Möricke; Ki 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB

Chromosome breakage factor in the plasma

Chromosome breakage factor in the plasma of two Bloom's syndrome patients

✍ I. Emerit; P. A. Cerutti; A. Levy; P. Jalbert 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 254 KB

Embryonal rhabdomyosarcoma and chromosom

Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome

✍ Al-Nemri, Abdul Rahman; Kilani, Ramzi A.; Salih, Mustafa A.M.; Al-Ajlan, Abdul A 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. Howe