Partial Trisomy of 13(pter to Q12) Due to 47,XY, + Der(13),t(13;22)(q12;q13)mat

Overview

Journal Hum Genet

Specialty Genetics

Date 1979 Sep 1

PMID 489007

Citations 6

Authors

S J Moedjono

R S Sparkes

Affiliations

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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 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.

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Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

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