Familial inverted duplication 7p

American Journal of Medical Genetics
G B SchaeferW Sanger

Abstract

A 10-month-old female with developmental delay and failure to thrive was referred for genetic evaluation as part of an adoption assessment. Physical exam showed a mildly beaked nose and clinodactyly, but otherwise nothing remarkable. Chromosome analysis showed an inverted duplication of the p12.2-->p13 portion of chromosome 7[(46,XX, dup(7)(p13p12.2)]. The proposita's older brother, mother, and grandmother were cognitively delayed and had the same chromosome 7 duplication. A review of the literature showed no other cases involving this exact duplication.

References

Jul 1, 1987·American Journal of Medical Genetics·J M OdellD Salk

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Citations

Aug 3, 2005·Journal of Medical Genetics·J C K Barber
Feb 25, 1998·Journal of Medical Genetics·H RiveraJ A Crolla
May 23, 1998·Journal of Medical Genetics·I A GlassP D Cotter
Jan 13, 2000·American Journal of Human Genetics·D MonkG E Moore
Mar 17, 2001·American Journal of Medical Genetics·M J MartinezD Kotzot
Nov 15, 2006·American Journal of Medical Genetics. Part a·E PapadopoulouM B Petersen
May 16, 2001·American Journal of Medical Genetics·C M WolpertM A Pericak-Vance

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