Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus.
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DOI：
10.1002/ajmg.a.33408
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发表时间：
2010-06
影响因子：
2
通讯作者：
Mancini, Grazia M. S.
中科院分区：
文献类型：
--
作者：
Verkerk, Annemieke J. M. H.;Schot, Rachel;van Waterschoot, Laura;Douben, Hannie;Poddighe, Pino J.;Lequin, Maarten H.;de Vries, Linda S.;Terhal, Paulien;Hahnemann, Johanne M. D.;de Coo, Irenaeus F. M.;de Wit, Marie-Claire Y.;Wafelman, Leontien S.;Garavelli, Livia;Dobyns, William B.;Van der Spek, Peter J.;de Klein, Annelies;Mancini, Grazia M. S.
The combination of megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus (MPPH) is a rare syndrome of unknown cause. We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. We describe the phenotype and the deletion breakpoints of the two MPPH-like patients and compare these with five unrelated MPPH and Sotos patients harboring a 5q35 microdeletion. Mapping of the breakpoints in the two cousins was performed by MLPA, FISH, high density SNP-arrays and Q-PCR for the 5q35 deletion and 20q13 duplication. The 5q35 deletion area of the two cousins almost completely overlaps with earlier described patients with an atypical Sotos microdeletion, except for the DRD1 gene. The five unrelated MPPH patients neither showed submicroscopic chromosomal aberrations nor DRD1 mutations. We reviewed the brain MRI of 10 Sotos patients and did not detect polymicrogyria in any of them. In our two cousins, the MPPH-like phenotype is probably caused by the contribution of genes on both chromosome 5q35 and 20q13. Some patients with MPPH may harbor a submicroscopic chromosomal aberration and therefore high-resolution array analysis should be part of the diagnostic workup.
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影响因子：
2
作者：
Dobyns, William B.;Mirzaa, Ghayda;Christian, Susan L.;Petras, Kristin;Roseberry, Jessica;Clark, Gary D.;Curry, Cynthia J. R.;McDonald-McGinn, Donna;Medne, Livija;Zackai, Elaine;Parsons, Julie;Zand, Dina J.;Hisama, Fuki M.;Walsh, Christopher A.;Leventer, Richard J.;Martin, Christa L.;Gajecka, Marzena;Shaffer, Lisa G.
通讯作者：
Shaffer, Lisa G.
影响因子：
4
作者：
Menten, B.;Maas, N.;Vermeesch, J. R.
通讯作者：
Vermeesch, J. R.
影响因子：
9.8
作者：
Brooks, AS;Bertoli-Avella, AM;Hofstra, RMW
通讯作者：
Hofstra, RMW
影响因子：
0.7
作者：
Courtens, Winnie;Wauters, Jan;Wuyts, Wim
通讯作者：
Wuyts, Wim
DOI：
10.1002/ajmg.10420
发表时间：
2002-07-22
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Plotner, PL;Smith, JL;Northrup, H
通讯作者：
Northrup, H