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Titel:

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome

Autor(en):
Tadin-Strapps, M.; Warburton, D.; Baumeister, F.A.M.; Fischer, S. G.; Yonan, J.; Gilliam, T. C.; Christiano, A. M.
Abstract:
Ambras syndrome (AMS) is a unique form of universal congenital hypertrichosis. In patients with this syndrome, the whole body is covered with fine long hair, except for areas where normally no hair grows. There is accompanying facial dysmorphism and teeth abnormalities, including retarded first and second dentition and absence of teeth. In 1993, Baumeister et al. reported an isolated case of Ambras syndrome in association with a pericentric inversion of chromosome 8. Subsequently, another patien...     »
Zeitschriftentitel:
Cytogenetic and Genome Research
Jahr:
2004
Band / Volume:
107
Heft / Issue:
1-2
Seitenangaben Beitrag:
68--76
Volltext / DOI:
doi:10.1159/000079573
Verlag / Institution:
S. Karger AG
Verlagsort:
Basel, Switzerland
Print-ISSN:
1424-859X
E-ISSN:
1424-859X
Hinweise:
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich. This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
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