Add to ORKGCopyright © 2013 M. Abreu-González et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and developmental anomalies. Partial duplication of chromosome 3q syndrome is a well-described condition, and the phenotypic manifestations include a characteristic facies, microcephaly, hirsutism, synophrys, broad nasal bridge, congenital heart disease, genitourinary disorders, and mental retardation. Approximately 60%–75 % of cases are derived from a balanced translocation. We describe a family ...
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype:...
Duplication 3q Syndrome (Dup (3q)) is a congenital developmental disorder resulting from a duplicati...
Item does not contain fulltextThe 3p deletion syndrome is a rare disorder caused by deletions of dif...
Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and deve...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and r...
SUMMARY We report a kindred in which three children suffer from partial trisomy lq and partial monos...
3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features,...
Copyright © 2015 Hannie Kartapradja et al. This is an open access article distributed under the Crea...
Abstract Background Balanced reciprocal translocation is usually an exchange of two terminal segment...
Copyright © 2011 Bani Bandana Ganguly et al. This is an open access article distributed under the Cr...
Contains fulltext : 25332___.PDF (publisher's version ) (Open Access
Two siblings affected with partial trisomy 3p resulting from a maternal balanced translocation 46,XX...
Here we report the clinical and cytogenetic results of a family carrying a cryptic translocation inv...
Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical...
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype:...
Duplication 3q Syndrome (Dup (3q)) is a congenital developmental disorder resulting from a duplicati...
Item does not contain fulltextThe 3p deletion syndrome is a rare disorder caused by deletions of dif...
Chromosomal abnormalities that result in genomic imbalances are a major cause of congenital and deve...
which permits unrestricted use, distribution, and reproduction in any medium, provided the original ...
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and r...
SUMMARY We report a kindred in which three children suffer from partial trisomy lq and partial monos...
3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic physical features,...
Copyright © 2015 Hannie Kartapradja et al. This is an open access article distributed under the Crea...
Abstract Background Balanced reciprocal translocation is usually an exchange of two terminal segment...
Copyright © 2011 Bani Bandana Ganguly et al. This is an open access article distributed under the Cr...
Contains fulltext : 25332___.PDF (publisher's version ) (Open Access
Two siblings affected with partial trisomy 3p resulting from a maternal balanced translocation 46,XX...
Here we report the clinical and cytogenetic results of a family carrying a cryptic translocation inv...
Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical...
Partial trisomy 3q in a child with sacrococcygeal teratoma and Cornelia de Lange syndrome phenotype:...
Duplication 3q Syndrome (Dup (3q)) is a congenital developmental disorder resulting from a duplicati...
Item does not contain fulltextThe 3p deletion syndrome is a rare disorder caused by deletions of dif...