Literature DB >> 7398112

Kleeblattschädel anomaly and partial trisomy for chromosome 13 (47,XY,+der(13),t(3,13)(q24; q14).

M McCorquodale, R P Erickson, M Robinson, K Roszczipka.   

Abstract

This paper reports a case of partial trisomy involving the proximal segment of the long arm of chromosome 13. Kleeblattschädel anomaly was one of the many anomalies found in conjunction with this syndrome. The cytogenetic classification of the extra partial chromosome was based on trypsin-giemsa banding patterns and a paternal translocation involving chromosomes 3 and 13.

Mesh:

Year:  1980        PMID: 7398112     DOI: 10.1111/j.1399-0004.1980.tb00171.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

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

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  Proximal trisomy 13. A family with balanced reciprocal translocation t(8;13) in seven members and Robertsonian translocation t(13;14) in three members.

Authors:  S Gilgenkrantz; C Defeche; S Stehlin; M J Gregoire
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy.

Authors:  Monica Martin-de Saro; Zyndia Compean; Karina Aguilar; Luz María González-Huerta; Lautaro Plaza-Benhumea; Olga Messina-Baas; Sergio Alberto Cuevas-Covarrubiass
Journal:  Mol Syndromol       Date:  2021-07-20
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.