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126 Possible Causes for Chromosome 14 Paternal Uniparental Disomy

  • West Syndrome

    A DNA methylation test at MEG3 in 14q32.2 and microsatellite analysis using polymorphic markers on chromosome 14 confirmed that the patient had maternal uniparental disomy[ncbi.nlm.nih.gov] 14 as well as a mosaic small marker chromosome of paternal origin containing the proximal long arm of chromosome 14.[ncbi.nlm.nih.gov]

  • Umbilical Sepsis

    uniparental disomy chromosome 14-like syndrome due a maternal de novo 160kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and[unipa.it] PRETERM Proceedings Vai 2015 Role of poultry meat in a balanced diet aimed at maintaining health and wellbeing: an Italian consensus document Articolo su rivista Vai 2015 Paternal[unipa.it]

  • Unverricht-Lundborg Syndrome

    uniparental disomy Mosaic genome-wide paternal UPD Mosaic monosomy X Mosaic paternal uniparental disomy of chromosome 11 Mosaic trisomy 1 Mosaic trisomy 10 Mosaic trisomy[orpha.net] 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 2 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy[orpha.net] Morquio disease Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan's fibrillary chorea Morvan syndrome Mosaic genome-wide paternal[orpha.net]

  • Benign Adult Familial Myoclonic Epilepsy

    uniparental disomy Mosaic genome-wide paternal UPD Mosaic monosomy X Mosaic paternal uniparental disomy of chromosome 11 Mosaic trisomy 1 Mosaic trisomy 10 Mosaic trisomy[orpha.net] 12 Mosaic trisomy 14 Mosaic trisomy 15 Mosaic trisomy 16 Mosaic trisomy 17 Mosaic trisomy 2 Mosaic trisomy 20 Mosaic trisomy 22 Mosaic trisomy 3 Mosaic trisomy 4 Mosaic trisomy[orpha.net] Morquio disease Morquio disease type A Morquio disease type B Morris syndrome Morse-Rawnsley-Sargent syndrome Morvan's fibrillary chorea Morvan syndrome Mosaic genome-wide paternal[orpha.net]

  • Familial Recurrent Peripheral Facial Palsy

    disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temtamy preaxial brachydactyly syndrome[se-atlas.de] uniparental disomy of chromosome 14 Kapur-Toriello syndrome Kearns-Sayre syndrome Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden[se-atlas.de] Kagami-Ogata syndrome Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Kagami-Ogata syndrome due to paternal[se-atlas.de]

  • Spinocerebellar Ataxia Type 14

    However, paternal uniparental disomy for chromosome 14 causes a specific condition.[diseaseinfosearch.org] Uniparental disomy, paternal, chromosome 14 is a genetic disorder. It usually occurs when the embryo is being created.[diseaseinfosearch.org] If you or a family member has been diagnosed with uniparental disomy, paternal, chromosome 14, talk with your doctor about the most current treatment options.[diseaseinfosearch.org]

  • Hypospadias

    Dartos flap coverage is routinely used as a protective layer during tubularized incised plate urethroplasty (TIPU) except when an associated foreskin reconstruction (FSR) precludes its use. In this study we compare the outcome of distal hypospadias repair with and without foreskin reconstruction by the same[…][ncbi.nlm.nih.gov]

  • Coxa Valga

    Uniparental disomy, paternal, chromosome 14 MedGen UID: 330856 • Concept ID: C1842466 • Disease or Syndrome A rare genetic disease with characteristics of polyhydramnios ([ncbi.nlm.nih.gov]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temtamy preaxial brachydactyly syndrome[se-atlas.de] uniparental disomy of chromosome 14 Kapur-Toriello syndrome Kearns-Sayre syndrome Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden[se-atlas.de] Kagami-Ogata syndrome Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Kagami-Ogata syndrome due to paternal[se-atlas.de]

  • Distal Hereditary Motor Neuropathy Type 1

    disomy of chromosome 14 Temple syndrome due to paternal 14q32.2 hypomethylation Temple syndrome due to paternal 14q32.2 microdeletion Temtamy preaxial brachydactyly syndrome[se-atlas.de] uniparental disomy of chromosome 14 Kapur-Toriello syndrome Kearns-Sayre syndrome Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden Kein Name gefunden[se-atlas.de] Kagami-Ogata syndrome Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Kagami-Ogata syndrome due to paternal[se-atlas.de]

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