Search Results - "Loneus, WH"

Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients by Engelen, John J.M., Loneus, Wim H., Vaes-Peeters, Gerrie, Schrander-Stumpel, Constance T.R.M.

“…Kabuki syndrome is charcterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip…”
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Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes by Marcus-Soekarman, D., Hamers, G., Velzeboer, S., Nijhuis, J., Loneus, W.H., Herbergs, J., de Die-Smulders, C., Schrander-Stumpel, C., Engelen, J.

“…We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation…”
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Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers by Arens, Y.H.J.M., Engelen, J.J.M., Govaerts, L.C.P., van Ravenswaay, C.M., Loneus, W.H., van Lent-Albrechts, J.C.M., van der Blij-Philipsen, M., Hamers, A.J.H., Schrander-Stumpel, C.T.R.M.

“…We report on the clinical and cytogenetic data of a large family with an unbalanced insertion translocation (3;5)(q25.3;q22.1q31.3). Analysis of GTG‐banded…”
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Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH by De Pater, JM, Ippel, PF, Van Dam, WM, Loneus, WH, Engelen, JJM

“…de Pater JM, Ippel PF, van Dam WM, Loneus WH, Engelen JJM. Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH. …”
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Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q by de Pater, J M, Nikkels, P G J, Poot, M, Eleveld, M J, Stigter, R H, van der Sijs-Bos, C J M, Loneus, W H, Engelen, J J M

“…During routine ultrasound screening at 12 weeks 5 days of gestation, a nuchal translucency of 7 mm, an omphalocele, and fetal hydrops were found and prompted…”
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Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18 by de Pater, J.M., Poot, M., Beemer, F.A., Bijlsma, J.B., Hack, W.W.M., Van Dam, W.M., Eleveld, M.J., Loneus, W.H., Engelen, J.J.M.

“…A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de…”
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Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers by Engelen, J.J.M., Arens, Y.H.J.M., Gondrie, E.T.C.M., Alofs, M.G.P., Loneus, W.H., Hamers, A.J.H.

“…Chromosome analysis in a couple referred because of two spontaneous abortions showed a normal 46,XX karyotype in the 28‐year‐old female and an aberrant Y…”
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Report of a patient with a trisomy of chromosome region 20q11.2-->20q12 and characterization with FISH by Wanderley, H Y C, Schrander-Stumpel, C T R M, Visser, M O J M, Van Maanen-Op Het Roodt, E A M, Loneus, W H, Engelen, J J M

“…We report on a 16-month-old boy presenting with psychomotor retardation, craniofacial anomalies and severe vision deficit. Analysis of GTG-banded chromosomes…”
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Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques by de Pater, J. M., Govaerts, L. C. P., de Man, S. A., van der Sijs-Bos, C. J. M., Christiaens, G. C. M. L., van Dam, W. M., Loneus, W. H., Engelen, J. J. M.

“…Objective This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following…”
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Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication by Moog, U, Engelen, J J, de Die-Smulders, C E, Albrechts, J C, Loneus, W H, Haagen, A A, Raven, E J, Hamers, A J

“…We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal…”
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De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH by Sanchez-Garcia, J.F., de Die-Smulders, C.E.M., Weber, J.W., Jetten, A.G.P., Loneus, W.H., Hamers, A.J.H., Engelen, J.J.M.

“…We report on a 2‐year‐old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat…”
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