Delineation of trisomy 9 syndrome.

Romain, D R; Sullivan, Jan

doi:10.1136/jmg.20.2.156

Cited by 9 publications

(3 citation statements)

References 4 publications

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“…We reviewed reports of 36 cases of mosaic and nonmosaic trisomy 9 which resulted in a live birth or term stillbirth, in addition to our 2 previously unreported cases [Akatsuka et al, 1979;Anneren and Sedin, 1981;Bowen et al, 1974;Carpenter and Tomkins, 1982;Delicado et al, 1985;de Michelina et al, 1992;Diaz-Mares et al, 1990;Feingold and Atkins, 1973;Frydman et al, 1981;Ginsberg et al, 1989;Haslam et al, 1973;Herranz et al, 1987;Kaminker et al, 1985;Katayama et al, 1980;Kurnick et al, 1974;Levy et al, 1989;Lewandowski and Yunis, 1977;Mace et al, 1978;Mantagos et al, 1981;Marino et al, 1989;Pfeiffer and Muller, 1984;Qazi et al, 1977;Romain and Sullivan, 1983;Sanchez et al, 1982;Schinzel et al, 1974;Seabright et al, 1976;Sherer et al, 1992;Sutherland et al, 1976;Taslimi and Glass, 1990;Tropp and Currie, 1977;Wilroy et al, 1985;Wilson and Barr, 1983;Williams et al, 19851. Four prenatally diagnosed cases which did not result in term birth were also reviewed and will be discussed, but were not included in the data analysis [Franke et al, 1975;Frohlich, 1982;Schwartz et al, 1989;Zadeh et al, 19871.…”

Section: Methodsmentioning

confidence: 68%

“…0 1995 Wiley-Liss, Inc. Haslam et al, 1973;Herranz et al, 1987;Kaminker et al, 1985;Katayama et al, 1980;Kurnick et al, 1974;Levy et al, 1989;Lewandowski and Yunis, 1977;Mace et al, 1978;Mantagos et al, 1981;Marino et al, 1989;Pfeiffer and Muller, 1984;Qazi et al, 1977;Romain and Sullivan, 1983;Sanchez et al, 1982;Schinzel et al, 1974;Schwartz et al, 1989;Seabright et al, 1976;Sherer et al, 1992;Sutherland et al, 1976;Taslimi and Glass, 1990;Tropp and Currie, 1977;Wilroy et al, 1985;Wilson and Barr, 1983;Williams et al, 1985;Zadeh et al, 1987).…”

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confidence: 95%

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Trisomy 9: Review and report of two new cases

et al. 1995

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Trisomy 9 is a relatively uncommon chromosome abnormality that may sometimes be seen in the nonmosaic state. We reviewed 23 mosaic and 15 nonmosaic cases of trisomy 9, including 2 new cases, in order to better define the prognosis and phenotype of this disorder. A recognizable trisomy 9 phenotype was identified and included a "bulbous" nose, microphthalmia, and dislocated limbs. Other nonspecific anomalies involving various organ systems were also common. With one exception, all survivors had severe mental impairment. Mosaicism for trisomy 9 predicted longer survival, but the degree of mosaicism in lymphocytes or fibroblasts did not predict survival or degree of impairment. Parental chromosome variations were not uncommon. In contrast to prior reports, no specific prognostic finding was identified. A meiotic origin with loss of a trisomic cell line in mosaic cases is suggested.

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Section: Methodsmentioning

confidence: 68%

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confidence: 95%

Trisomy 9: Review and report of two new cases

et al. 1995

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“…Variable segments resulting in duplication of long arm of chromosome 9 has been noted [Aftimos et al, 1980;Allderdice et al, 1983;Anneren and Sedin, 1981;Chamla et al, 1977;de Grouchy and Wrleau, 1984;Faed et al, 1976;Frohlich, 1982;Mattei et al, 1980;Nakahori and Nakagome, 1984;Naritomi et al, 1989;Pescia et al, 1979;Romain and Sullivan, 1983;Scheibenreiter et al, 1976;Soltan et al, 1984;Subrt et al, 1976;Tenet al, 1987;Turleau et al, 1975;Wilson et al, 19851. Therefore, as our case appears to be unique, we attempted to compare the clinical findings with previously reported cases (Table I).…”

Section: Clinical Reportmentioning

confidence: 98%

Inversion‐duplication of bands q13→q21 of human chromosome 9

Luke¹,

Verma²,

PeBenito³

et al. 1991

Am. J. Med. Genet.

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Structural abnormalities involving heterochromatic regions of the human genome are difficult to characterize because these segments are G-band negative by GTG technique, a routinely used procedure in clinical cytogenetic laboratories. Chromosome abnormalities of such cases have gone undetected or were incorrectly characterized because these regions are so-called heteromorphisms or variants. Consequently, much anxiety has been aroused by the confusion between a chromosome abnormality and a normal heteromorphic variant. We report the first documented case with a so-called highly unusual h region of chromosome 9 which is not a variation but a structural rearrangement involving a paracentric inversion and a duplication. The major clinical features were psychomotor retardation, microcephaly, narrow palpebral fissures, renal and genital anomalies, vertebral anomalies, protruding tongue, and learning and behavioral problems. A concise review of variable duplicated segments of 9q is also provided.

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The phenotypic and cytogenetic spectrum of partial trisomy 9

1985

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A new patient with trisomy for the chromosome segment 9pter----q22 is compared to 19 previously reported cases of partial trisomy 9. Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from 9p21 to 9q13, while intra-uterine growth retardation, cleft lip/palate, skeletal anomalies, and heart defects are more common with trisomic segments extending through 9q22-9q32. A graphic method illustrates this progression in the partial trisomy 9 malformation spectrum as the triplicated chromosome region extends from bands 9p21 to 9q32. More severe and random defects are observed with complete trisomy 9 or tetrasomy 9p, suggesting an extreme excess of material greatly increases developmental variability.

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Delineation of trisomy 9 syndrome.

Cited by 9 publications

References 4 publications

Trisomy 9: Review and report of two new cases

Trisomy 9: Review and report of two new cases

Inversion‐duplication of bands q13→q21 of human chromosome 9

The phenotypic and cytogenetic spectrum of partial trisomy 9

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