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We report on an infant with multiple congenital anomalies possessing a derivative 14 chromosome in excess of the normal complement, resulting from transmission of a familial t(5;14)(p13;q22). The proposita's phenotypically normal mother, mentally retarded half-brother, and fetal sib are carriers of the apparently balanced translocation. Previous cases of similar familial t(5;14) are reviewed. The proposita's phenotype is characterized by failure to thrive, developmental retardation, cleft palate, congenital heart anomaly, abnormal hands and feet, unusual face with abnormal ears, and recurrent respiratory infections. The proposita died at age 9 months and postmortem examination showed multiple central nervous system, cardiopulmonary, gastrointestinal, and genital malformations. Our proposita's phenotype is attributable to contributions from both chromosomes and is consistent with the consequences of both the dup(5p) and dup(14q).
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
April 2003,
Journal of medical genetics,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
December 1998,
American journal of medical genetics,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
January 2009,
Cytogenetic and genome research,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
September 1980,
Australian paediatric journal,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
April 2011,
American journal of medical genetics. Part A,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
June 2006,
Movement disorders : official journal of the Movement Disorder Society,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
October 2008,
American journal of medical genetics. Part A,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
January 2006,
European journal of medical genetics,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
August 1993,
Cancer genetics and cytogenetics,
J P Park, and
M J Edwards, and
J B Moeschler, and
J M Marin-Padilla, and
S Z Berg, and
D H Wurster-Hill
June 2004,
Clinical genetics,
