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Cytogenetic study in a mentally retarded child with bloom syndrome and acute lymphoblastic leukemia

✍ Scribed by Werner-Favre, Christiane ;Wyss, Marinette ;Cabrol, Christine ;Félix, Françoise ;Guenin, Rita ;Laufer, Daniel ;Engel, Eric

Publisher
John Wiley and Sons
Year
1984
Tongue
English
Weight
445 KB
Volume
18
Category
Article
ISSN
0148-7299

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✍ Schnur, Rhonda E.; Greenbaum, Barbara H.; Heymann, Warren R.; Christensen, Kathe 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. We report on the sixth child with this syndrome and the first of these to develop acute lymphoblastic leukemia at age