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Partial trisomy of 13(pter→q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat

✍ Scribed by Sri J. Moedjono; R. S. Sparkes

Publisher
Springer
Year
1979
Tongue
English
Weight
864 KB
Volume
50
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 portion 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.

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