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Family with partial monosomy 10p and trisomy 10p.
Hon E, Chapman C, Gunn TR. Hon E, et al. Am J Med Genet. 1995 Mar 27;56(2):136-40. doi: 10.1002/ajmg.1320560204. Am J Med Genet. 1995. PMID: 7625434 Review.
We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor delay, growth failure, congenital heart defect, multicystic kidney, grade V vesicoureteric reflux, and neurosensory hearing loss. ...
We report on a family with an abnormality of 10p. The propositus has monosomy for the distal region of 10p and severe psychomotor del …
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.
Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S. Lichtner P, et al. J Med Genet. 2000 Jan;37(1):33-7. doi: 10.1136/jmg.37.1.33. J Med Genet. 2000. PMID: 10633131 Free PMC article. Review.
Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). ...In addition to the two patients in this report, at least four published cases with partial …
Partial monosomy 10p is a rare chromosomal condition and a significant proportion of patients show features of DiGeorge syndro …