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Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)

✍ Scribed by J. Stamberg; J. Shapiro; D. Valle; F. P. Kuhajda; G. Thomas; L. Wissow

Book ID
119839119
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
255 KB
Volume
19
Category
Article
ISSN
0009-9163

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A newborn with a 46,XY,der(13),t(6;13)(p22;q34 or 33)pat karyotype, trisomic for the 6p22 leads to 6pter segment and, perhaps, monosomic for the 13q telomere, is reported. The balanced translocation is familial and was also encountered in the sister and paternal grandmother. The infant's phenotype w

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Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11)
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Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, character