✦ LIBER ✦

GAPO syndrome in a child without dermal hyaline deposit

✍ Scribed by Phadke, Shubha R. ;Haldhar, Ashutosh ;Sharma, Anita K. ;Pande, Rakesh ;Bhatia, Vijayalakshmi ;Agarwal, S. S.

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 256 KB
Volume: 51
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320510303

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

NovelSURF1 mutation in a child with suba

NovelSURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome

✍ Salviati, Leonardo ;Freehauf, Cindy ;Sacconi, Sabrina ;DiMauro, Salvatore ;Thoma 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 217 KB 👁 2 views

Mirror-symmetric duplicated chromosome 2

Mirror-symmetric duplicated chromosome 21q with minor proximal deletion, and with neocentromere in a child without the classical Down syndrome phenotype

✍ Barbi, G.; Kennerknecht, I.; W�hr, G.; Avramopoulos, D.; Karadima, G.; Petersen, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

We report on a mentally retarded child with multiple minor anomalies and an unusually rearranged chromosome 21. This der(21) chromosome has a deletion of 21p and of proximal 21q, whereas the main portion of 21q is duplicated leading to a mirrorsymmetric appearance with the mirror axis at the breakpo