An infant with trisomy 9p and partial trisomy 12p derived from maternal balanced translocation: A case report and literature review
We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2024-11-01
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| Series: | Journal of International Medical Research |
| Online Access: | https://doi.org/10.1177/03000605241300093 |
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| Summary: | We present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using conventional cytogenetic chromosomal analysis using the GTG-banding technique. The mother was a carrier of a balanced chromosomal translocation of 46, XX, t(9;12)(q13;p11.2), that resulted in an unbalanced translocation of the offspring, who had a karyotype 47, XX, +der(9)t(9;12)(q13;p11.2)dmat, featuring a combined trisomy of 9q13→9pter region and 12p11.2→12pter region. Clinical phenotype of the infant included cephalo-facial deformity, growth retardation, hypertonia, opisthotonus, laryngeal wheezing, foot deformity, and congenital heart disease. |
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| ISSN: | 1473-2300 |