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Zenker, M.* ; Rittinger, O.* ; Grosse, K.-P.* ; Speicher, M.R. ; Kraus, J. ; Rauch, A.* ; Trautmann, U.*

Monosomy 1p36 - a recently delineated, clinically recognizable syndrome.

Clin. Dysmorphol. 11, 43-48 (2002)
DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Monosomy 1p36 ^ a recently delineated, clinically recognizable syndrome M. Zenker a ,O.Rittinger b ,K.-P.Grosse c , M.R. Speicher d ,J.Kraus d ,A.Rauch a and U.Trautmann a a Institut fˇr Humangenetik der Universitt Erlangen-Nˇrnberg, Germany; b Klinische Genetik, Kinderspital, Landeskrankenanstalten Salzburg, Austria; c KinderarztpraxisPDDr.med.Dr.med.habil.Grosse,H ̨chstadt/Aisch,Germany; d Institut fˇr Anthropologie und Humangenetik, Ludwig-Maximilian-Universitt Mˇnchen, Germany Correspondence to (present address) Dr med. Martin Zenker, Universitts-Klinik fˇr Kinder und Jugendliche, Loschgestrasse 15, 91054 Erlangen, Germany Tel.:+4991318533118;Fax:+4991318533113; E-mail: martin.zenker @ kinder.imed.uni-erlangen.de Received:9March2001;accepted:26August2001 Monosomy 1p36 is a recently delineated contiguous gene syndrome, which is now considered to be one of the most common subtelomeric microdeletion syndromes. We report four unrelated patients with subtle deletions within 1p36 confirmed by high resolution karyotyping and FISH. All exhibited severe psychomotor retardation. Microcephaly, seizures, and visual impairment occurred in three subjects. Results of a first routine karyotyping were unrevealing in three probands. The diagnosis was primarily suggested on the basis of a distinct pattern of facial anomalies in all except the first case. This report illustrates that monosomy 1p36 may be recognized clinically, at least in some patients, whereas the diagnosis is easily missed on routine karyotype.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter chromosome deletion 1p; mental retardation; phenotype; fluorescence in situ hybridization
ISSN (print) / ISBN 0962-8827
e-ISSN 1473-5717
Zeitschrift Clinical Dysmorphology
Quellenangaben Band: 11, Heft: 1, Seiten: 43-48 Artikelnummer: , Supplement: ,
Verlag Lippincott Williams & Wilkins
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)