ArticleIntractable & rare diseases research2019
Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter- >14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features.
Article in Intractable & rare diseases research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
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3 authors at 1 institution in 1 country.
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Abstract
Trisomy 9 including mosaic and partial trisomy is less frequently seen chromosomal abnormality in live born children. The pure or partial trisomy 9 frequently been reported in prenatal diagnosis and product of conception. However few studies reported partial trisomy 9 in live born children. In addition data on genotype and phenotype correlation of partial trisomy is not well understood except few case reports. Here we report a case of partial trisomy 9 and monosomy 14 with a 46,XY,der(9)t(9;14)(q22.1;q11.2)pat,-14 karyotype in a 5-year old dysmorphic child. The proband was confirmed as trisomic for 9pter->9q22.1 and monosomic for 14pter->q11.2 due to paternal t(9;14)(q22.1;q11.2) balanced translocation using a combination of conventional and molecular cytogenetic (fluorescence in situ hybridization, array-comparative genomic hybridization) techniques. The clinical features similar to pure trisomy 9 is due to duplication of the large region of chromosome 9. However, the present report of partial trisomy 9 and monosomy 14 is a novel case report and showing comparatively longer survival which have not been previously reported in the literature. The parent of the proband was counseled for the future pregnancies.
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