Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

Hypomelanosis of Ito in a girl with plexus papilloma and translocation (X;17)

We describe a de novo constitutional (X;17) (q13;p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.

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Bibliographische Detailangaben
Veröffentlicht in:Human genetics 1993-02, Vol.90 (6), p.611-613
Hauptverfasser: Steichen-Gersdorf, E, Trawöger, R, Duba, H C, Mayr, U, Felber, S, Utermann, G
Format: Artikel
Sprache:eng
Schlagworte:
Choroid Plexus Neoplasms - complications
Choroid Plexus Neoplasms - genetics
chromosome 17
Chromosomes, Human, Pair 17
Ependymoma - complications
Ependymoma - genetics
Female
Humans
hypomelanosis of Ito
In Situ Hybridization, Fluorescence
Infant, Newborn
man
papilloma
Pigmentation Disorders - complications
Pigmentation Disorders - genetics
translocation
Translocation, Genetic
X Chromosome
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Beschreibung
Zusammenfassung:We describe a de novo constitutional (X;17) (q13;p13 translocation in a girl with the clinical features of hypomelanosis of to and plexus papilloma.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00202477