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Case Report: Partial trisomy of 15q due to inserted inverted duplication
Author(s) -
Elçioglu Nursel,
Fear Claudine,
Berry A. Caroline
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02566.x
Subject(s) - partial trisomy , gene duplication , trisomy , genetics , biology , karyotype , chromosome , gene
A de novo abnormal chromosome 15, with an inverted duplication of the segment (15q13.3 → 15q21.3) at 15q24.3, was found in a boy with mild developmental delay, facial dysmorphism, Marfan‐like appearance and severe language delay. There is an unusual disparity between the severe lack of speech and the presence of reasonable skills in other areas.