✍ Scribed by M. E. Käosaar; A. -V. N. Mikelsaar; T. A. Talvik; R. V. -A. Mikelsaar
No coin nor oath required. For personal study only.
A new case of "free" trisomy for the short arm of No. 9 chromosome identified by Giemsa staining and "Giemsa-11 technique" is reported.
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A 3-year-old girl with duplication 9 (p22 leads to p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.
A 10-year-old girl with partial deletion of the short arm of chromosome 9 is reported; karyotype: 46,XX,del(9)(p22). This syndrome results in a distinctive craniofacial dysmorphism with trigonocephaly and contrasting midfacial hypoplasia. Partial monosomy 9p was the result of a paternal de novo germ
A centric fission of chromosome 9 was found in a boy with trisomy 9p resulting from a de novo del (9p) and a 9p isochromosome. The patient presented with clinical findings similar to those described in previously reported cases of trisomy 9p. The cytogenetic evaluation and the molecular analysis usi