Literature DB >> 308344

A case of partial 9p monosomy with some unusual clinical features.

F J Rutten, T W Hustinx, A A Dunk-Tillemans, J M Scheres, Y S Tjon.   

Abstract

A patient is described with a karyotype 46,XX,del(9)(qter leads to p22:) and having the main clinical characteristics of pure monosomy for part of the short arm of chromosome No 9, among which craniosynostosis and trigonocephaly. She has also a few atypical features: a clearly advanced osseous maturation, marked congenital vertebral anomalies and unusual dermatoglyphics.

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Mesh：

Year:  1978        PMID： 308344

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.  The dermatoglyphic and clinical features of the 9p trisomy and partial 9p monosomy syndromes.

Authors:  R S Young; T Reed; M E Hodes; C G Palmer
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  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 in total

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