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dc.contributor.authorPiranit N. Kantaputraen_US
dc.contributor.authorChanin Limwongseen_US
dc.contributor.authorChintana Tochareontanapholen_US
dc.contributor.authorApiwat Mutiranguraen_US
dc.contributor.authorUmnat Mevateeen_US
dc.contributor.authorVerayuth Praphanphojen_US
dc.description.abstractWe report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation. © 2006 Wiley-Liss, Inc.en_US
dc.titleContiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletionen_US
article.title.sourcetitleAmerican Journal of Medical Genetics, Part Aen_US
article.volume140en_US Mai Universityen_US Universityen_US Universityen_US Instituteen_US
Appears in Collections:CMUL: Journal Articles

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