Partial trisomy 15 in a young girl

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A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.

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Partial deletion 10q.

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Trisomy 13 in a female over 5 years of age.

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Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

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Partial trisomy 15 in a young girl

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Genetics of Lupinus : IV. Colonization and Genetic Variability in Lupinus succulentus.

A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.

Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

Partial deletion 10q.

Trisomy 13 in a female over 5 years of age.

Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

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Partial trisomy 15 in a young girl

Abstract:

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