Publication: Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion
Issued Date
2006-12-01
Resource Type
ISSN
15524833
15524825
15524825
Other identifier(s)
2-s2.0-33845236580
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
American Journal of Medical Genetics, Part A. Vol.140, No.23 (2006), 2598-2602
Suggested Citation
Piranit N. Kantaputra, Chanin Limwongse, Chintana Tochareontanaphol, Apiwat Mutirangura, Umnat Mevatee, Verayuth Praphanphoj Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion. American Journal of Medical Genetics, Part A. Vol.140, No.23 (2006), 2598-2602. doi:10.1002/ajmg.a.31386 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/23467
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion
Other Contributor(s)
Abstract
We 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.