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A case of trisomy 21 with holoprosencephaly: The fifth case

✍ Scribed by Hiromi Hamada; Tadao Arinami; Mitsuhiko Koresawa; Takeshi Kubo; Hideo Hamaguchi; Hirokazu Iwasaki

Book ID: 105333689
Publisher: Nature Publishing Group
Year: 1991
Tongue: English
Weight: 589 KB
Volume: 36
Category: Article
ISSN: 1435-232X
DOI: 10.1007/bf01876579

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An infant with karyotype 46,XY,der(8),t(3;8)(q21;p23) is presented. The presence of trisomy 3q21 leads to qter syndrome is suspected on the basis of comparison of the clinical and laboratory findings of this patient with those of cases that have been reported as partial 3q trisomy. The common phenot

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✍ Zubizarreta, Pedro ;Muriel, Federico Sackmann ;Barbieri, María Angélica Fernánde 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB

## Abstract Transient myeloproliferative disorder (TMD) is an uncommon syndrome strongly associated with abnormalities of chromosome 21. Blast transient proliferation appears most frequently at neonatal age and usually resolves spontaneously in two or three months. Two patients, a girl and a boy,

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## Abstract ## BACKGROUND Methotrexate (MTX) embryopathy was described nearly 50 years ago, when this agent began to be used as a cancer treatment and abortifacient. In this report we describe a case with typical features of MTX syndrome together with new features to expand the phenotype. ## CASE