Phenotype associated with ring 10 chromosome: report of patient and review of literature

American Journal of Medical Genetics
V V MichelsV M Riccardi

Abstract

A 15-month-old infant's peripheral blood chromosome analysis showed the following defects: 46,XY,r(10)(p15.3q26.1) in 84 cells, 45,XY,-r(10) in 13 cells, and 47,XY,r(10),+r(10) in one cell. Clinical abnormalities included growth retardation, microcephaly, prominent nasal bridge, macular hypoplasia, persistent pulmonary hypertension, and posterior urethral valves with hydronephrosis. Comparison of the phenotype of five other patients with a ring chromosome 10 with the present case showed the following common manifestations: growth retardation, microcephaly, undescended testes, hydronephrosis, and, in males, posterior urethral valves. To date, this last anomaly has not been seen in patients with either a del(10p) or a del(10q) abnormality.

References

Mar 1, 1975·Journal of Medical Genetics·M H ShokeirH O'Brien
Apr 5, 1979·Human Genetics·C TurleauD Bouygues
Oct 1, 1979·Human Genetics·G SimoniC Piria-Schwarz
Jun 27, 1978·Human Genetics·R C LewandowskiC B Mankinen
Sep 19, 1978·Human Genetics·R S SparkesH Muller
Sep 1, 1977·Acta paediatrica Scandinavica·R BergerP L Toubas
Apr 1, 1980·Journal of Medical Genetics·R TsukinoM Koike

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Citations

Dec 19, 2012·Journal of Applied Genetics·Roberta Santos GuilhermeMaria Isabel Melaragno
Aug 1, 1992·British Journal of Urology·P A BorziR Fowler
Aug 1, 1992·British Journal of Urology·H DoğruyolE Balkan
Apr 30, 2015·Molecular Cytogenetics·Živilė ČiuladaitėAlgirdas Utkus
Jan 1, 1985·American Journal of Medical Genetics·S D ShapiroC M Moore
Aug 1, 1994·American Journal of Medical Genetics·M ShapiraA Lorber
Dec 15, 1991·American Journal of Medical Genetics·C L Borovik, D Brunoni
Sep 1, 1985·Jinrui idengaku zasshi. The Japanese journal of human genetics·K KishiY Satoh

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