Search Results - "Mieloo, H"

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis by de Leeuw, N, Pfundt, R, Koolen, D A, Neefs, I, Scheltinga, I, Mieloo, H, Sistermans, E A, Nillesen, W, Smeets, D F, de Vries, B B A, Knoers, N V A M

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Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature by Feenstra, I., Koolen, D.A., Van der Pas, J., Hamel, B.C.J., Mieloo, H., Smeets, D.F.C.M., Van Ravenswaaij, C.M.A

“…Duplications of the proximal segment of chromosome 22q are not uncommon, like Cat-eye syndrome and duplications due to familial (11;22) translocations…”
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A new case of dup(1)(q21.2q12) in an individual with mild mental retardation by Faas, B H W, Mieloo, H, Van Es-Van Gaal, J W M, Van Ravenswaaij, C

“…Proximal duplications of the long arm of chromosome 1 are rare and the few patients that have been described in literature have multiple congenital…”
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Down-Turner syndrome: case report and review by Van Buggenhout, G J, Hamel, B C, Trommelen, J C, Mieloo, H, Smeets, D F

“…We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's…”
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Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients by Van Buggenhout, G.J.C.M., van Ravenswaaij-Arts, C., Mieloo, H., Syrrou, M., Hamel, B., Brunner, H., Fryns, J.P.

“…In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic…”
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Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features by Kleefstra, T, van de Zande, G, Merkx, G, Mieloo, H, Hoovers, J M, Smeets, D

“…Recently, much attention has been given to subtelomeric chromosomal rearrangements as important aetiological factors leading to idiopathic mental retardation…”
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