Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease

Frederik J. Hes; Kamlesh Madan; I. Shan Rombout-Liem; Karoly Szuhai; Helena Sorensen; Hans Kristian Ploos van Amstel; Egbert Bakker; Theo J. Visser; Johannes W. Smit; Kerstin Hansson

doi:10.1002/ajmg.a.33004

Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease

Frederik J. Hes, Kamlesh Madan, I. Shan Rombout-Liem, Karoly Szuhai, Helena Sorensen, Hans Kristian Ploos van Amstel, Egbert Bakker, Theo J. Visser, Johannes W. Smit, Kerstin Hansson

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Original language	English
Pages (from-to)	2231-2235
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	149A
Issue number	10
DOIs	https://doi.org/10.1002/ajmg.a.33004
Publication status	Published - Oct 2009

Keywords

Mental retardation
hypogonadism
dicentric Y chromosome
thyroid hormone receptor beta (THRB) gene
Wilson disease

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Hes, F. J., Madan, K., Rombout-Liem, I. S., Szuhai, K., Sorensen, H., van Amstel, H. K. P., Bakker, E., Visser, T. J., Smit, J. W., & Hansson, K. (2009). Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease. American Journal of Medical Genetics Part A, 149A(10), 2231-2235. https://doi.org/10.1002/ajmg.a.33004

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title = "Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease",

keywords = "Mental retardation, hypogonadism, dicentric Y chromosome, thyroid hormone receptor beta (THRB) gene, Wilson disease",

author = "Hes, {Frederik J.} and Kamlesh Madan and Rombout-Liem, {I. Shan} and Karoly Szuhai and Helena Sorensen and {van Amstel}, {Hans Kristian Ploos} and Egbert Bakker and Visser, {Theo J.} and Smit, {Johannes W.} and Kerstin Hansson",

year = "2009",

month = oct,

doi = "10.1002/ajmg.a.33004",

language = "English",

volume = "149A",

pages = "2231--2235",

journal = "American Journal of Medical Genetics Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

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Hes, FJ, Madan, K, Rombout-Liem, IS, Szuhai, K, Sorensen, H, van Amstel, HKP, Bakker, E, Visser, TJ, Smit, JW & Hansson, K 2009, 'Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease', American Journal of Medical Genetics Part A, vol. 149A, no. 10, pp. 2231-2235. https://doi.org/10.1002/ajmg.a.33004

Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease. / Hes, Frederik J.; Madan, Kamlesh; Rombout-Liem, I. Shan et al.
In: American Journal of Medical Genetics Part A, Vol. 149A, No. 10, 10.2009, p. 2231-2235.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease

AU - Hes, Frederik J.

AU - Madan, Kamlesh

AU - Rombout-Liem, I. Shan

AU - Szuhai, Karoly

AU - Sorensen, Helena

AU - van Amstel, Hans Kristian Ploos

AU - Bakker, Egbert

AU - Visser, Theo J.

AU - Smit, Johannes W.

AU - Hansson, Kerstin

PY - 2009/10

Y1 - 2009/10

KW - Mental retardation

KW - hypogonadism

KW - dicentric Y chromosome

KW - thyroid hormone receptor beta (THRB) gene

KW - Wilson disease

U2 - 10.1002/ajmg.a.33004

DO - 10.1002/ajmg.a.33004

M3 - Article

SN - 1552-4825

VL - 149A

SP - 2231

EP - 2235

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 10

ER -

Hes FJ, Madan K, Rombout-Liem IS, Szuhai K, Sorensen H, van Amstel HKP et al. Multiple Genomic Aberrations in a Patient With Mental Retardation and Hypogonadism: 45,X/46,X,psu dic(Y) Karyotype, Thyroid Hormone Receptor Beta (THRB) Mutation and Heterozygosity for Wilson Disease. American Journal of Medical Genetics Part A. 2009 Oct;149A(10):2231-2235. doi: 10.1002/ajmg.a.33004