Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.
Kulikowski
Leslie Domenici
LD
Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Bellucco
Fernanda T S
FT
Nogueira
Sintia I
SI
Christofolini
Denise M
DM
Smith
Marilia de A C
Mde A
de Mello
Claudia B
CB
Brunoni
Decio
D
Melaragno
Maria Isabel
MI
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders / Q000235:genetics*; D020223:Chromosome Painting; D022202:Chromosomes, Artificial, Bacterial; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D020732:Cytogenetic Analysis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*