title: Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.
abstract: Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described only for 12p, 18p, and 9p. Nineteen previous cases of tetrasomy 9p have been reported, and in 6 cases, tissue-specific mosaicism was implied with the i(9p) cell line present exclusively or predominantly in blood. We report on an infant who had apparently normal chromosomes (46,XY) on CVS. He was referred for genetic evaluation because of mild developmental delay and minor anomalies. In 75% of blood cells he had an extra isodicentric 9p chromosome (pter-->q12-->pter). The interpretation of tetrasomy 9p was confirmed by elevated GALT activity. No tetrasomy 9p cells were seen in 100 skin fibroblasts. This case demonstrates the tissue specific mosaicism in tetrasomy 9p which rendered the anomaly undetectable by CVS. It also demonstrates the mild end of the clinical spectrum associated with tetrasomy 9p.
authors.affiliation: Clinical Genetics Center, Carolinas Medical Center, Charlotte, NC 28232-2861.
authors.forename: F S
authors.initials: FS
authors.lastname: Grass
authors.forename: J C
authors.initials: JC
authors.lastname: Parke
authors.forename: H N
authors.initials: HN
authors.lastname: Kirkman
authors.forename: V
authors.initials: V
authors.lastname: Christensen
authors.forename: O F
authors.initials: OF
authors.lastname: Roddey
authors.forename: R V
authors.initials: RV
authors.lastname: Wade
authors.forename: C
authors.initials: C
authors.lastname: Knutson
authors.forename: J E
authors.initials: JE
authors.lastname: Spence
mesh_terms: D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D002658:Developmental Disabilities / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male