✦ LIBER ✦

Clinical and Chromosome Studies of Three Patients with Smith-Magenis Syndrome

✍ Scribed by J. F. de Rijk-van Andel; C. E. Catsman-Berrevoets; J. O. Hemel; A. J. H. Hamers

Book ID: 115265785
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 385 KB
Volume: 33
Category: Article
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.1991.tb14885.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Quantification by flow cytometry of chro

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

✍ B. J. Trask; Heather Mefford; Ger van den Engh; Hillary F. Massa; Ramesh C. Juya 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 111 KB

Multi-disciplinary clinical study of Smi

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

✍ Greenberg, Frank; Lewis, Richard A.; Potocki, Lorraine; Glaze, Daniel; Parke, Ju 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views

Smith-Magenis syndrome (SMS) is a multiple congenital anomaly, mental retardation (MCA/MR) syndrome associated with deletion of chromosome 17 band p11.2. As part of a multi-disciplinary clinical, cytogenetic, and molecular approach to SMS, detailed clinical studies including radiographic, neurologic

644 Polysomnographic study in children w

644 Polysomnographic study in children with interstitial deletion of 17P.11.2 chromosome (Smith-Magenis syndrome)

✍ M. Roccella 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 119 KB

Physical mapping of microdeletions of th

Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome

✍ Anne Moncla; Luciana Piras; Oswaldo Fernando Arbex; Françoise Muscatelli; Marie- 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 535 KB

We used probes from the juxtacentromeric region of the chromosome 17 short arm to map three microdeletions in patients with Smith-Magenis syndrome. The common clinical findings were: speech delay with behavioural problems associated with broad flat midface, brachycephaly, broad nasal bridge and brac

Patient with large 17p11.2 deletion pres

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

✍ Natacci, F. ;Corrado, L. ;Pierri, M. ;Rossetti, M. ;Zuccarini, C. ;Riva, P. ;Mio 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 612 KB

We report on a 22-year-old woman carrying a del(17)(p11.2p12) and presenting with the clinical manifestations of both Smith-Magenis syndrome (SMS) and Joubert syndrome (JS). Her facial anomalies, brachydactyly, severe mental retardation, and selfinjuring behavior could be attributed to SMS, whereas

Stress and coping in families of childre

Stress and coping in families of children with Smith-Magenis syndrome

✍ R. M. Hodapp; D. J. Fidler; A. C. M. Smith 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB