Literature DB >> 858620

A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9.

B Zabel, S Hansen, U Hilig, H Gröting-Imhof.   

Abstract

A girl with 46, XX, del (11) (q23), inv (9) (p13, q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13, q13)).

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Year:  1977        PMID： 858620     DOI： 10.1007/BF00390443

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  [Partial 11q monosomy and trigonocephaly. A new syndrome].

Authors:  C Turleau; F Chavin-Colin; M Roubin; D Thomas; T J de Grouchy
Journal:  Ann Genet       Date:  1975-12

2.  Anomalies associated with partial deletion of long arm of chromosome 11.

Authors:  L G Linarelli; K G Pai; S F Pan; H M Rubin
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

3.  Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families.

Authors:  J Boué; J L Taillemite; P Hazael-Massieux; C Léonard; A Boué
Journal:  Humangenetik       Date:  1975-09-20

4.  Chromosome 11 long arm partial deletion: a new syndrome.

Authors:  E Engel; C S Hirshberg; S B Cassidy; B J McGee
Journal:  Am J Ment Defic       Date:  1976-01

5.  Deletion of 11q: report of two cases and a review.

Authors:  S A Larson; G W Yeatman; V M Riccardi
Journal:  Birth Defects Orig Artic Ser       Date:  1976

6.  An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

Authors:  P Jacobsen; M Hauge; K Henningsen; N Hobolth; M Mikkelsen; J Philip
Journal:  Hum Hered       Date:  1973       Impact factor: 0.444

7.  Structural variation in chromosome No 9.

Authors:  K Madan; M Bobrow
Journal:  Ann Genet       Date:  1974-06

8.  A case with 46, XX, del (11) (q21).

Authors:  J Faust; W Vogel; B Löning
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

9.  Pericentric inversion of chromosome 9.

Authors:  D E Mutton; M G Daker
Journal:  Nat New Biol       Date:  1973-01-17

10.  Incidence of chromosome aberrations among 11148 newborn children.

Authors:  J Nielsen; I Sillesen
Journal:  Humangenetik       Date:  1975-10-20
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  6 in total

1.  Partial deletion of the long arm chromosome 11 in Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1986 Jan-Feb       Impact factor: 1.967

2.  Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

Authors:  A C Smith; K Spuhler; T M Williams; T McConnell; E Sujansky; A Robinson
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

Review 3.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  Partial deletion of the long arm of chromosome 11 the Jacobsen syndrome.

Authors:  K S Reddy; I M Thomas; H S Narayanan
Journal:  Indian J Pediatr       Date:  1984 May-Jun       Impact factor: 1.967

5.  Partial inversion of the secondary constriction of chromosome 9. Does it exist?

Authors:  M G Mattei; J F Mattei; M Guichaoua; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318
  6 in total

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