PMID: 7333580Jan 1, 1981Paper

Chromosomes in the Cornelia de Lange syndrome

Human Genetics
B Beck, M Mikkelsen

Abstract

This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: a girl with a 45,X karyotype and a boy with a (13q14q) translocation which was also found in his phenotypically normal mother and maternal grandmother. Because of recent reports of the duplication 3q syndrome and Cornelia de Lange-like phenotypes, prometaphase chromosomes were studied in 31 patients. All karyotypes were normal. As there was an excess of boys among the younger patients, special examination for the fragile site on X(q28) was carried out. This abnormality was not found. Even though no patients with the dup(3q) syndrome were found among the Cornelia de Lange patients, chromosome studies are recommended especially in connection with genetic counselling. A recurrence rate of 2-5% must still be considered for the Cornelia de Lange syndrome.

References

Nov 10, 1977·Human Genetics·J R MerikangasS Pan
Nov 1, 1978·The Journal of Pediatrics·G N WilsonR D Schmickel
Sep 1, 1976·Acta paediatrica Scandinavica·B Beck
Oct 20, 1975·Humangenetik·J Nielsen, I Sillesen
Mar 1, 1975·Revue médicale de Liège·C Lambotte
Mar 26, 1976·Science·J J Yunis
Dec 21, 1968·Lancet·J OttD C Peakman
Jan 1, 1970·Chromosoma·T CasperssonE J Modest
Mar 1, 1974·Acta paediatrica Scandinavica·B Beck
Nov 1, 1968·Acta paediatrica Scandinavica·K A BroholmB Hall
Jul 1, 1981·Acta paediatrica Scandinavica·O Eeg-Olofsson, S Liedgren
Feb 5, 1981·The New England Journal of Medicine·D H LedbetterJ D Crawford
Sep 1, 1960·Experimental Cell Research·P S MOORHEADD A HUNGERFORD
Oct 1, 1963·The Journal of Pediatrics·G A JERVIS, C W STIMSON
Feb 20, 1965·Lancet·N P BISHUN, W R MORTON
Jan 1, 1965·Irish Journal of Medical Science·M P KENT, J P REES
Feb 1, 1965·Developmental Medicine and Child Neurology·J A DODGE
Feb 1, 1965·Developmental Medicine and Child Neurology·B GANS, J G THURSTON
Jan 1, 1965·Acta paediatrica Belgica·C HOOFTP JONGBLOET
Aug 28, 1965·Lancet·A P CRAIG, L LUZZATTI

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Citations

Jan 1, 1988·Virchows Archiv. A, Pathological Anatomy and Histopathology·M MaruiwaT Hashimoto
Dec 1, 1987·The Journal of Laryngology and Otology·E P Egelund
Dec 1, 1983·Journal of Medical Genetics·W G WilsonH E Wyandt
Oct 1, 1987·Journal of Medical Genetics·K K NaguibM J Marafie
Oct 1, 1985·Current Problems in Pediatrics·M G Wilson
Mar 1, 1984·Acta paediatrica Scandinavica·G Annerén, K H Gustavson
Jul 27, 2001·American Journal of Medical Genetics·M Urban, J Hartung
Mar 1, 1985·American Journal of Medical Genetics·P P HawleyD M Kurnit
Sep 1, 1985·American Journal of Medical Genetics·J M Opitz
Sep 1, 1985·American Journal of Medical Genetics·G A MosherW G Sanger
Nov 1, 1983·American Journal of Medical Genetics·M Preus, A P Rex
Nov 15, 1993·American Journal of Medical Genetics·A SelicorniA Pugliese
Apr 1, 1987·American Journal of Medical Genetics·S L Gould, P A Martin-DeLeon
Feb 1, 1988·American Journal of Medical Genetics·R F StrattonW R Morrow
Jun 1, 1991·American Journal of Medical Genetics·M WarburgH C Fledelius
Jun 23, 2015·American Journal of Medical Genetics. Part a·Cathy A Stevens
Sep 1, 1990·Ophthalmic Paediatrics and Genetics·M WarburgH K Thomsen
Dec 1, 1983·Journal of Medical Genetics·N B KardonM Krauss
Aug 1, 1985·Clinical Genetics·A LeavittC Davis
Aug 1, 1987·Clinical Genetics·L TranebjaergS Kreiborg

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