A Case with Partial 9p Trisomy and Speech Impairment

A female with XO/XY mosaicism and partial trisomy 9p.

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and pos...

Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report.

The phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We suggest that o...

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother.

adrenals. Autoradiography of skin fibroblast culture demonstrated that the cell line with 48 chromosome included a distinctly late-labelled X chromosome and an extra D chromosome labelling as expected for No. 13. The labelling in the 47 chromosome cell line also confirmed the extra D to be No. 13. No euploid cells were found. Chromosome analysis of peripheral blood from each parent was normal.

Partial Trisomy 9p(p22→pter) from a Maternal Translocation 4q35 and 9p22

We present clinical and cytogenetic data on a 7-year-old female child with partial trisomy for 9p22→9pter as a result of a maternal balanced reciprocal translocation. Her karyotype was ascertained as 46,XX,dec(4)t(4;9)(q35; p22)mat. The father had a normal karyotype, while the mother had an apparently balanced translocation involving chromosomes 4 and 9 [46,XX,t(4;9)(q35;p22)]. This case will b...