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Disomie uniparentale maternelle du chromosome 20

Translation of "Disomie uniparentale maternelle du chromosome 20 " (French → English) :

disomie uniparentale maternelle du chromosome 20
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A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay
SNOMEDCT-BE (disorder) / 715735007
SNOMEDCT-BE (disorder) / 715735007
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https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]
disomie uniparentale d'origine paternelle du chromosome 20
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A very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained
SNOMEDCT-BE (disorder) / 715736008
SNOMEDCT-BE (disorder) / 715736008
https://browser.ihtsdotools.or (...) (...) [HTML] [2018-01-01]
https://browser.ihtsdotools.or (...) [HTML] [2018-01-01]


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Disomie uniparentale maternelle du chromosome 20

Date index:2022-05-17 -

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