First case of deletion 14q11.2q13: clinical phenotype

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Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

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Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

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First case of deletion 14q11.2q13: clinical phenotype

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Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.

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First case of deletion 14q11.2q13: clinical phenotype

Abstract:

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