We report on a father and daughter with a partial 9p duplication, dup(9)(p22p24). Their phenotype, albeit mild, is characteristic of partial trisomy 9p. Fluorescence in situ hybridisation (FISH) was used to characterise further and confirm the G banding finding. This is the first reported instance of trisomy 9p occurring in two successive generations. The duplicated segment in these two patients is among the smallest segments reported. Comparison of our two patients and 144 reported patients with trisomy 9p (partial or complete trisomy) suggests that the 9p22 region may be responsible for the observed phenotype in 9p duplication cases.

https://jmg.bmj.com/content/jmedgenet/33/12/1045.full.pdf

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24).

We report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p– syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations. In addition to psychomotor retardation, their manifestations were mild and include upward slant of palpebral fissures and dolichomesophalangy which are characteristic of del(9p). Chromosome abnormalities were de novo in both cases.



The two rearranged chromosomes 9 exhibit similar G-banding patterns and suggested the possible duplication of distal 7p. Fluorescence in situ hybridization (FISH) with a chromosome-7 specific library probe indeed identified that one derivatie chromosome 9 was the result of a translocation between chromosomes 7 and 9 [der(9)t(7;9)(p15.3;p24)] but failed to detect a signal on the other derivative 9. In the second case, the concurrent abnormality was an inverted duplication of proximal 9p and deletion of distal 9p [invdup(9)(p13p22::p22qter)] confirmed by FISH using a chromosome 9 specific librarayprobe. FISH clearly identified the origin of these 2 abnormal choromosomes 9 and provided crucial information for clinical evaluation We emphasize the importance of utilizing updated cytogenetic and molecular techniques in the precise delineation of subtle or complex abnormalities where there are no useful phenotypic clues. © 1993 Wiley-Liss, Inc.

Molecular and cytogenetic characterization of 9p- abnormalities.

A de novo direct duplication of 9p22p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting probe as well as 6 YAC DNA probes localized to the 9p13–9p23 region The breakpoints in this patient and previously reported patients suggest that 9p22 may be the critical region for duplication 9p syndrome Am J Med Genet 77:268–271, 1998 © 1998 Wiley-Liss, Inc

Direct duplication of 9p22→p24 in a child with duplication 9p syndrome

We report three cases of tetrasomy 9p, two of which were confirmed prenatally. All three had characteristic findings on ultrasound and at birth. We also present a review of the literature, which suggests that a recognizable phenotype for this condition is emerging. Common findings on prenatal ultrasound include intrauterine growth restriction, ventriculomegaly, cleft lip or palate, and renal anomalies. These findings can provide a clue toward the prenatal diagnosis of this condition. There is also a clearly recognizable phenotype at birth. Facial characteristics include hypertelorism, broad nasal bridge/bulbous or beaked nose, cleft lip/palate, ear anomalies, and micrognathia. The exact extent of the isochromosome does not seem to predict severity, but mosaic cases are less severe, or at least have a greater probability of survival.

Three cases of tetrasomy 9p

A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a model number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47,XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.

Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.

Duplication of the short arm of chromosome 9. Analysis of five cases

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Duplication of the short arm of chromosome 9. Analysis of five cases