Search Results - "Engelen, JJM"

Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability by Evers, L. J. M., van Amelsvoort, T. A. M. J., Candel, M. J. J. M., Boer, H., Engelen, J. J. M, Curfs, L. M. G.

“…Background 22q11 deletion syndrome (22q11DS) is associated with mild or borderline intellectual disability (ID). There are hardly any reports on subjects with…”
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FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour by Finelli, P, Natacci, F, Bonati, M T, Gottardi, G, Engelen, J J M, de Die-Smulders, C E M, Sala, M, Giardino, D, Larizza, L

“…The father suffered from alcohol misuse and left the family when the patient was 12 years old. Because of behavioural problems shown after their father left…”
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Original Article: Subtelomeric chromosome aberrations: still a lot to learn by Moog, U, Arens, YHJM, JCM van Lent-Albrechts, PEA Huijts, Smeets, EEJ, Schrander-Stumpel, CTRM, Engelen, JJM

“…Cryptic subtelomeric chromosome aberrations are a significant cause of mental retardation (MR). More than 4000 patients have been investigated, and the mean…”
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Subtelomeric chromosome aberrations: still a lot to learn by Moog, U, Arens, YHJM, Van Lent-Albrechts, JCM, Huijts, PEA, Smeets, EEJ, Schrander-Stumpel, CTRM, Engelen, JJM

“…Cryptic subtelomeric chromosome aberrations are a significant cause of mental retardation (MR). More than 4000 patients have been investigated, and the mean…”
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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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Phenotypic variability of the cat eye syndrome. Case report and review of the literature by Rosias, P R, Sijstermans, J M, Theunissen, P M, Pulles-Heintzberger, C F, De Die-Smulders, C E, Engelen, J J, Van Der Meer, S B

“…We present a male infant with preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left…”
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Prenatal diagnosis of a karyotypically normal pregnancy in a mother with a supernumerary neocentric 13q21 → 13q22 chromosome and balancing reciprocal deletion by Knegt, A. C., Li, S., Engelen, J. J. M., Bijlsma, E. K., Warburton, P. E.

“…An adult female patient with a history of miscarriages was found to be carrying a stable supernumerary chromosome. The patient also carried a reciprocal…”
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A simple and efficient method for microdissection and microFISH by Engelen, J J, Albrechts, J C, Hamers, G J, Geraedts, J P

“…A simple and efficient method for the dissection of (marker) chromosomes, (micro)nuclei, and chromosome regions is presented. Before microdissection,…”
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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome by Meijer, H, de Graaff, E, Merckx, D M, Jongbloed, R J, de Die-Smulders, C E, Engelen, J J, Fryns, J P, Curfs, P M, Oostra, B A

“…The vast majority of individuals with the fragile X syndrome show expanded stretches of CGG repeats in the 5' non-coding region of FMR1. This expansion…”
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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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A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises by Spruijt, L., Engelen, J.J.M., Bruinen‐Smeijsters, I.P., Albrechts, J.C.M., Schrander, J., Schrander‐Stumpel, C.T.R.M.

“…We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild…”
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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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Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences by de Pater, J. M., Kroes, H. Y., Verschuren, M., van Oppen, A. C. C., Albrechts, J. C. M., Engelen, J. J. M.

“…Objective Our objective was to characterise a marker chromosome in cultured amniocytes of a fetus with a mos 47,XX,+mar[3]/46,XX[14] karyotype. Methods The…”
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Deletion of chromosome region 18q21.1 → 18q21.3 in a patient without clinical features of the 18q‐ phenotype by Engelen, J.J.M., Moog, U., Weber, J., Haagen, A.A.M., van Uum, C.M.J., Hamers, A.J.H.

“…In a 16‐month‐old boy referred because of developmental delay and asymmetric motor development, chromosome analysis showed an aberrant chromosome 18 in all 25…”
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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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Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12) by Moog, U, Engelen, J J, Weber, B W, Van Gelderen, M, Steyaert, J, Baas, F, Sijstermans, H M, Fryns, J P

“…We present a 6-year-old boy with moderate developmental delay, gait disturbance, autism related disorder and mild dysmorphic features. He was seen for…”
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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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Chromosome bands and ends revisited by Moog, Ute, Engelen, John J.M., Schrander-Stumpel, Connie T.R.M., Fryns, Jean-Pierre

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