✦ LIBER ✦

Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome

✍ Scribed by Hebebrand, Johannes ;Martin, Mathias ;Körner, Judith ;Roitzheim, Barbara ;de Braganca, Katja ;Werner, Willigis ;Remschmidt, Helmut

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 328 KB
Volume: 54
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320540316

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

No evidence of partial trisomy 16p in an

No evidence of partial trisomy 16p in an autistic calendar savant with tourette syndrome

✍ Nelson, Elliot C. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

Myelodysplastic syndrome with trisomy 8

Myelodysplastic syndrome with trisomy 8 in an adolescent with fanconi anaemia and selective igA deficiency

✍ Dr. Graham R. Standen; Leuan A. Hughes; A. Denise Geddes; Brian M. Jones; Charle 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 385 KB

We describe a patient with growth failure and multiple congenital anomalies characteristic of Fanconi anaemia, but without the classical feature of progressive bone marrow hypoplasia. Following treatment with growth hormone for a period of 8 years, he presented with myelodysplastic syndrome and a ka

Microphthalmia and chorioretinal lesions

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to aicardi syndrome gene localization

✍ Donnenfeld, Alan E. ;Graham, John M. ;Packer, Roger J. ;Aquino, Rosaria ;Berg, S 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 461 KB

We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome