Partial trisomy of 13(pter?q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat
Copyright policy )Partial trisomy of 13(pter?q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat
A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal protion of the long arm of chromosome 13 [47,XY, + der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable.
Adult, Chromosome Aberrations, Chromosomes, Human, 6-12 and X, Male, Chromosomes, Human, 19-20, Chromosome Disorders, Trisomy, Translocation, Genetic, Child, Preschool, Intellectual Disability, Karyotyping, Chromosomes, Human, 21-22 and Y, Humans, Female
Adult, Chromosome Aberrations, Chromosomes, Human, 6-12 and X, Male, Chromosomes, Human, 19-20, Chromosome Disorders, Trisomy, Translocation, Genetic, Child, Preschool, Intellectual Disability, Karyotyping, Chromosomes, Human, 21-22 and Y, Humans, Female
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