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J P Fryns - One of the best experts on this subject based on the ideXlab platform.
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sotos syndrome and de novo balanced autosomal translocation t 3 6 p21 p21
Clinical Genetics, 2008Co-Authors: Constance T R M Schranderstumpel, J P Fryns, G HamersAbstract:In this report we describe a 6-year-old boy with Sotos syndrome and a de novo apparently balanced 3/6 translocation (Karyotype: 46,XY,t(3;6)(p21;p21)). Pre- and postnatal overgrowth are observed in an increasing number of conditions of variable etiology. In the Sotos syndrome autosomal dominant inheritance with variable expression has been documented. Here we discuss the importance of the cytogenetic findings and postulate a relationship between the invisible loss of chromosomal material at 3p21 and/or 6p21 and the expression of the autosomal dominant gene.
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partial 8p trisomy due to interstitial duplication Karyotype 46 xx inv dup 8 p21 1 p22
Clinical Genetics, 2008Co-Authors: J P Fryns, A Kleczkowska, A M Dereymaker, M Hoefnagels, G Heremans, J Marien, H Van Den BergheAbstract:A 24-year-old female with severe mental retardation, congenital malformations and dysmorphic features is described. 8p trisomy due to a de novo inv dup(8) (p21.1----p22) was found in her Karyotype. Other published cases with 8p trisomy are reviewed.
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trisomy of chromosome 16p13 3 due to an unbalanced insertional translocation into chromosome 22p13
European Journal of Medical Genetics, 2005Co-Authors: Thomy De Ravel, Peter Aerssens, Joris Vermeesch, J P FrynsAbstract:Abstract A dysmorphic boy with severe mental retardation was found on array CGH to have an insertional translocation of chromosome 16p13.3 into the short arm of chromosome 22, Karyotype 46,XY,.ish der(22),ins(22;16)(p13;p13.3p13.3) de novo. His clinical features overlap with the reported cases of ‘duplication 16p’ syndrome, namely a round face, hypertelorism, a long philtrum, micrognathia, a thin upper lip, a posterior cleft palate and low set, simple ears, clubbed feet, severe developmental delay, psychomotor retardation and seizures. This 4-year boy with trisomy 16p13.3 has the smallest duplication reported of this critical region, which could not be detected without array CGH. The maximal duplicated region is gene rich and contains about 80 genes and/or candidate genes. Assignment of the genes that contribute to the observed phenotype awaits the characterisation of other patients with small duplications in this region.
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prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli fetal oedema and complex cardiopathy
Prenatal Diagnosis, 1998Co-Authors: Ingrid Witters, Philippe Moerman, Griet Van Buggenhout, J P FrynsAbstract:We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: Karyotype: 46, XX, inv dup(5) (pterq3.53::q3.53–q3.33::q3.53qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given. Copyright © 1998 John Wiley & Sons, Ltd.
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microcephaly lymphedema and terminal deletion of the long arm of chromosome 13
American Journal of Medical Genetics, 1995Co-Authors: J P FrynsAbstract:Recently, we examined a 2-year-old boy with the association of microcephaly and significant pedal edema that extended to the distal parts of the legs. Prometaphase chromosome studies showed a small terminal deletion in the long arm of chromosome 13 of band 13q34, Karyotype 46,XY,del(13)(q34{yields}qter). The present finding of a small terminal 13q34 deletion in this young boy with microcephaly/lymphedema is a first indication that the lymphedema/microcephaly association can be due to a small terminal 13q deletion. 2 refs.
Karlhenrik Gustavson - One of the best experts on this subject based on the ideXlab platform.
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a boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with turner mosaicism in a family with a translocation 8p 19p
Clinical Genetics, 2008Co-Authors: Goran Anneren, Tore Frykberg, Karlhenrik GustavsonAbstract:In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a Karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
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a boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with turner mosaicism in a family with a translocation 8p 19p
Clinical Genetics, 2008Co-Authors: Goran Anneren, Tore Frykberg, Karlhenrik GustavsonAbstract:In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a Karyotype 46, XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46, XX, t(8p;19p)/45, X, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in the woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
Goran Anneren - One of the best experts on this subject based on the ideXlab platform.
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a boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with turner mosaicism in a family with a translocation 8p 19p
Clinical Genetics, 2008Co-Authors: Goran Anneren, Tore Frykberg, Karlhenrik GustavsonAbstract:In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a Karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
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a boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with turner mosaicism in a family with a translocation 8p 19p
Clinical Genetics, 2008Co-Authors: Goran Anneren, Tore Frykberg, Karlhenrik GustavsonAbstract:In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a Karyotype 46, XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46, XX, t(8p;19p)/45, X, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in the woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
J Dumon - One of the best experts on this subject based on the ideXlab platform.
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application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p monosomy 6q due to a familial pericentric inversion
Clinical Genetics, 2008Co-Authors: Jan Wauters, P J Bossuyt, L Roelen, B Van Roy, J DumonAbstract:Wauters JG, Bossuyt PJ, Roelen L, van Roy B, Dumon J. Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin Genet 1993: 44: 262–269. © Munksgaard, 1993 We report the prenatal diagnosis of a Karyotype 46,XY,rec(6)dup p, inv(6) (p23q27) mat detected by fluoroscence in situ hybridization using chromosome 6pter and 6qter specific DNA markers. This partial duplication-deletion (6p12pter; 6q27qter) emanated from a balanced pericentric inversion 46,XX inv(6) (p23q27)pat present in the mother. The phenotypes of two relatives with the same unbalanced anomaly are described. This report illustrates the sensitivity and specificity of fluorescence in situ hybridization (FISH) and its benefit in rapid and unequivocal prenatal diagnosis of subtle chromosomal rearrangements.
Lihua Zhang - One of the best experts on this subject based on the ideXlab platform.
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establishment of an induced pluripotent stem cell line zzusahi002 a derived from peripheral blood mononuclear cells of a healthy individual
Stem Cell Research, 2020Co-Authors: Shichao Liu, Shaohui Niu, Haiyan Xiong, Liguo Jian, Lihua ZhangAbstract:Peripheral blood mononuclear cells (PBMCs) were isolated from a 32-year-old female and were reprogrammed to human induced pluripotent stem cells (iPSCs) using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and cMYC. The ZZUSAHi002-A iPSC line expresses pluripotency markers, exhibits a normal female Karyotype (46, XX) and has the capacity to differentiate into three germ layers in vivo. This iPSC line may be used for cell transplantations, drug testing and biological tissue engineering.