PMID: 3746829Aug 1, 1986Paper

Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13

Journal of Medical Genetics
S A TharapelR S Wilroy

Abstract

Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent.

References

Apr 1, 1975·American Journal of Diseases of Children·R C Lewandowski, J J Yunis
Feb 21, 1977·European Journal of Pediatrics·J C AllenJ M Opitz
Apr 27, 1979·Human Genetics·L A JonesA F Hartmann
Sep 1, 1979·Human Genetics·S J Moedjono, R S Sparkes
Jan 1, 1979·American Journal of Medical Genetics·J C Pettersen
May 10, 1977·Human Genetics·A CuschieriJ M Scheres
Feb 18, 1976·Journal of the American Chemical Society·M F Czarniecki, E R Thornton
May 1, 1974·Mutation Research·A G SkavronskayaA A Kiryushkina
Jan 22, 1974·Humangenetik·J P FrynsH van den Berghe
Aug 1, 1974·American Journal of Diseases of Children·J I EscobarJ J Yunis
Aug 1, 1974·American Journal of Diseases of Children·J I Escobar, J J Yunis
Mar 1, 1984·Clinical Genetics·J F Rogers
Jul 1, 1984·Indian Journal of Pediatrics·S A TharapelM K Kukolich
Apr 1, 1983·European Journal of Pediatrics·B PilgaardM Mikkelsen
Aug 1, 1982·Journal of Medical Genetics·W W WoolfO W Jones
Mar 1, 1981·Jinrui idengaku zasshi. The Japanese journal of human genetics·K NaraharaH Kimoto
Jan 1, 1981·American Journal of Medical Genetics·S L Wenger, M W Steele
Dec 1, 1981·American Journal of Diseases of Children·E BonioliM G Vianello

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Citations

Dec 1, 1995·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·M B Qumsiyeh
May 12, 2005·International Journal of Pediatric Otorhinolaryngology·Seckin O UlualpPeter S Roland
Jan 6, 2011·Proceedings of the National Academy of Sciences of the United States of America·Vijay G SankaranHarvey F Lodish
Jul 31, 2007·Journal of Clinical Pathology·Graciela Quijano, Ricardo Drut
Jun 14, 2005·Acta Ophthalmologica Scandinavica·Eyvind RødahlGro Oddveig Ness
Apr 9, 2009·American Journal of Medical Genetics. Part a·Jillene M KoganStephanie M Ware
Feb 24, 2011·American Journal of Medical Genetics. Part a·Ebru AyparDursun Odabas
Nov 14, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jinglan LiuJean-Pierre de Chadarévian
Jan 27, 2010·American Journal of Medical Genetics. Part a·Veronica BertiniAngelo Valetto
Nov 28, 2009·European Journal of Medical Genetics·Paul A van der ZwaagConny M A van Ravenswaaij-Arts
Oct 14, 2005·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·J M de PaterJ J M Engelen
Aug 22, 2014·Clinical Dysmorphology·Magdalena KrygierJanusz Limon
Feb 15, 2001·American Journal of Medical Genetics·J D MorrissetteN B Spinner
Dec 8, 2011·Annals of Dermatology·Byong Han SongKwang Joong Kim
May 13, 2005·American Journal of Medical Genetics. Part a·Inge B MathijssenRaoul C M Hennekam
Oct 23, 1995·American Journal of Medical Genetics·M UriosteJ Rueda
Jul 31, 1995·American Journal of Medical Genetics·V V RaoB Say
Aug 1, 1990·American Journal of Medical Genetics·J I RodríguezA Delicado
May 1, 1995·Food Additives and Contaminants·R Márquez MárquezE Madrigal Bujaidar
Jul 13, 2002·American Journal of Medical Genetics·Shulan LiPeter E Warburton
Mar 31, 1998·Clinical Genetics·N ElçiogluA C Berry
Jul 22, 2021·Molecular Genetics & Genomic Medicine·Verónica Fabiola Morán-BarrosoFernando Fernández-Ramírez

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