DISOMIAS UNIPARENTALES PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. Other search option s Alphabetical list.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. This disease is described under Angelman syndrome. Detailed information. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs.

Check this box if you wish to receive a copy of your message. Summary This disease is described under Angelman syndrome. Additional information Further information on this disease Classification s 4 Gene s 1 Other website s 3. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 79 Orphan designation s and orphan drug s 2. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Családban ismétlodo 21-es trisomia és uniparentalis disomia

Research output : Article. Both parents had normal karyotype. Recurrent trisomy 21 may occur by chance but germline mosaicism for trisomy 21 in one of the parents is also possible. In the latter case the recurrence risk for trisomy 21 is high. Molecular analysis was undertaken which proved the maternal origin of the extra chromosome As the microsatellite marker analysis of the mother showed homozygosity for all the investigated markers on chromosome 21, we performed the analysis on her relatives, as well.

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Paternal uniparental disomy of chromosome 14

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.

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