Literature DB >> 837573

The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction.

F Bergamo, F Crosato, D Francesconi, F Pasqual, O Zuffardi.   

Abstract

Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.

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Year:  1977        PMID： 837573     DOI： 10.1111/j.1399-0004.1977.tb01303.x

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


  8 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.  A case of de novo, double, balanced translocations (distal 9p to 3p, distal 18q to 3q).

Authors:  J E Hall; E J Hart
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

Review 3.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

4.  Short stature and microgenitalia in the 9p-syndrome.

Authors:  H P Monaghan; N J Howard
Journal:  Ir J Med Sci       Date:  1981-12       Impact factor: 1.568

5.  Partial monosomy of the short arm of chromosome 9: a distinct clinical entity.

Authors:  J Deroover; J P Fryns; C Parloir; J Haegeman; H van den Berghe
Journal:  Hum Genet       Date:  1978-10-31       Impact factor: 4.132

6.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  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

Review 8.  Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.

Authors:  M G Mattei; N Souiah; J F Mattei
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  8 in total

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