Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
نویسندگان
چکیده
منابع مشابه
Myoclonus-dystonia due to maternal uniparental disomy.
BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...
متن کاملMaternal uniparental disomy for chromosome 14.
We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not ...
متن کاملCystic fibrosis and Silver–Russell syndrome due to a partial maternal isodisomy of chromosome 7
If an infant with cystic fibrosis exhibits failure to thrive, despite adequate disease management, Silver-Russell syndrome should be considered, given the locations of these conditions in the genome. However, an earlier clue to the diagnosis is small-for-gestational-age birth.
متن کاملDiagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay.
EDITOR—In approximately 10% of patients with SilverRussell syndrome, preand postnatal growth retardation with relative macrocephaly, triangular facies, and asymmetry is associated with maternal uniparental disomy of chromosome 7 (UPD(7)mat). The purpose of this report is to present a novel assay to diagnose UPD(7)mat by analysing the methylation status of PEG1/MEST, the only known imprinted gen...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2020
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2020.100660