Familial partial duplication (1)(p21p31)

American Journal of Medical Genetics
L HoechstetterE K Schorry

Abstract

A partial duplication (1)(p21p31), resulting from a maternal direct insertion (13,1) (q22p21p31), was found in a 30-year-old woman with mental retardation, cleft palate, and multiple minor anomalies. Two other affected and deceased relatives were presumed to have the same chromosome imbalance. Duplication 1p cases are reviewed.

References

Jan 1, 1976·Cytogenetics and Cell Genetics·R S VermaH A Lubs
Apr 1, 1992·Human Genetics·K Madan, F H Menko
Feb 1, 1990·Clinical Genetics·P J Howard, M Porteus
Jan 1, 1987·Klinische Pädiatrie·M SchürmannE Schwinger
Mar 1, 1989·American Journal of Medical Genetics·F M MohammedT S Sundareshan

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Citations

Nov 1, 2007·European Journal of Human Genetics : EJHG·Barbara R MigeonPatricia A Jacobs
Jul 5, 2006·Fertility and Sterility·Osman Demirhan, Deniz Tastemir
Jul 3, 2007·American Journal of Medical Genetics. Part a·Juliana F MazzeuAngela M Vianna-Morgante
Jun 24, 1998·American Journal of Medical Genetics·I F LoS T Lam

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