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Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

✍ Scribed by T. Gardeitchik; N. de Leeuw; L. Nijtmans; P. Jira; T. Kozicz; M. Czako; I. van de Burgt; E. Morava

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
110 KB
Volume
158A
Category
Article
ISSN
1552-4825

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Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1)
✍ Czakó, Márta ;Riegel, Mariluce ;Morava, Éva ;Schinzel, Albert ;Kosztolányi, Györ 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 106 KB 👁 2 views

## Abstract A girl with psychomotor retardation and a pattern of minor anomalies was found to have a slightly enlarged short arm of chromosome 18 by conventional GTG‐banded chromosome examination. The 18p + chromosome has also been found in the father. FISH studies using chromosome 18–and chromosom