Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are “pure” duplications from those with accompanying monosomy for another chromosome suggests that a cleft p...

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Bibliographic Details
Published in:American journal of medical genetics 2001-04, Vol.100 (1), p.13-24
Main Authors: Bird, Lynne M., Mascarello, James T.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Child, Preschool
Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 2 - genetics
Female
Gene Duplication
Humans
Infant
Infant, Newborn
insertion
Male
Medical genetics
Medical sciences
Middle Aged
monosomy
translocation
trisomy
Citations: Items that this one cites
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Summary:A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are “pure” duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment. © 2001 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20010415)100:1<13::AID-AJMG1185>3.0.CO;2-5