Literature DB >> 316671

Type and contretype signs in monosomy and trisomy 9p. On a case 46,XY, del (9) (pter yields p12:).

A Hernandez, H Rivera, M Jiménez-Sainz, R Fragoso, Z Nazara, J M Cantu.   

Abstract

A 15-month-old male with a partial monosomy 9p is reported. The comparative analysis with other cases of 9p monosomy demonstrates a typical phenotype which when compared to that of 9p trisomy, permits the delineation of fifteen "type and contretype" signs.

Mesh：

Year:  1979        PMID： 316671

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  3 in total

Review 1.  Eleven new cases of del(9p) and features from 80 cases.

Authors:  J L Huret; C Leonard; B Forestier; M O Rethoré; J Lejeune
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

2.  Deletion of the short arm of chromosome 9. A clinically recognisable entity.

Authors:  J P Fryns; J C Pedersen; H Duyck; G Fabry; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1980-09       Impact factor: 3.183

3.  Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives.

Authors:  M Pearson; C Riske; J E Allanson
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318
  3 in total

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