Partial trisomy of 13(pter?q12) due to 47,XY,+der(13),t(13;22)(q12;q13)mat
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 50 (3) , 241-246
- https://doi.org/10.1007/bf00399388
Abstract
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.This publication has 18 references indexed in Scilit:
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