Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.
作者： S A Tharapel , R C Lewandowski , A T Tharapel , R S Wilroy
DOI: 10.1136/JMG.23.4.310
关键词:
摘要: Analysis of clinical and cytogenetic findings taken from 62 published cases partial trisomies chromosome 13 showed that 15 had trisomy for the proximal long arm 47 distal arm. Persistence fetal haemoglobin (Hb F), increased projections polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, clinodactyly were more frequent in patients with 13. In group, common features included haemangioma, bushy eyebrows, curled eyelashes, prominent philtrum, thin upper lip, highly arched palate, hexadactyly. addition, several other to both groups, often showing inconsistency even when same segment was trisomy. The influence second aneusomy as most likely cause such inconsistent overlapping phenotypes is discussed view fact 42 derived a balanced translocation carrier parent.
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sci-hub.se 参考文章(49)
J. Felix Rogers, Clinical delineation of proximal and distal partial 13q trisomy. Clinical Genetics. ,vol. 25, pp. 221- 229 ,(2008) , 10.1111/J.1399-0004.1984.TB01982.X
M. McCorquodale, R. P. Erickson, M. Robinson, K. Roszczipka, Kleeblattschadel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24; Clinical Genetics. ,vol. 17, pp. 409- 414 ,(2008) , 10.1111/J.1399-0004.1980.TB00171.X
F. Prieto, L. Badia, F. Asensi, V. Roques, Two reciprocal translocations t(9p+;13q-) and t(13q-;21q+): a study of the families. Human Genetics. ,vol. 54, pp. 7- 11 ,(1980) , 10.1007/BF00279042
Martens Pr, Summitt Rl, Wilroy Rs, Partial trisomy for different segments of chromosome 13 in several individuals of the same family. Birth defects original article series. ,vol. 11, pp. 217- ,(1975)
J. Lucas, C. Junien, F. Picard, B. Le Marec, F. Le Mee, [Pure trisomy 13q13-qter caused by aneusomic recombination of a maternal pericentric inversion]. Annales De Genetique. ,vol. 26, pp. 187- 190 ,(1983)
Pangalos C, Couturier J, Partial trisomy 13 (q21.3 leads to qter) resulting from a maternal translocation t (13;21). Annales De Genetique. ,vol. 24, pp. 179- ,(1981)
Pérez-Castillo A, de Torres Ml, Del Mazo J, Aller, Martin-Lucas Ma, Martin-Sempere Mj, Abrisqueta Ja, Partial trisomy 13 due to maternal translocation t(7;13)(p22q14). Annales De Genetique. ,vol. 25, pp. 172- ,(1982)
de Grouchy J, Turleau C, Danis F, Kohout G, Briard Ml, [Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+]. Annales De Genetique. ,vol. 21, pp. 247- ,(1978)
Mattei Mg, Mattei Jf, Giraud F, [Partial trisomy 13 due to maternal translocation t(2;13)]. Annales De Genetique. ,vol. 20, pp. 203- ,(1977)
van den Berghe H, Petit P, Fryns Jp, Partial trisomy 13 with phenotype of Patau syndrome due to maternal reciprocal translocation t(6;13) (q25;q13). Annales De Genetique. ,vol. 23, pp. 57- 59 ,(1980)