Literature DB >> 489007

Partial trisomy of 13(pter to q12) due to 47,XY, + der(13),t(13;22)(q12;q13)mat.

S J Moedjono, R S Sparkes.   

Abstract

A 36-month-old boy presented with short stature, short neck, shield-shaped chest, and mental retardation. Chromosome analysis showed trisomy for the short arm and the proximal protion of the long arm of chromosome 13 [47,XY, + der(13),t(13;22)(q12;q13)mat]. The patient's mother has a balanced translocation between the long arms of chromosomes 13 and 22 [46,XX,t(13;22)(q12;q13)]. The patient's neutrophils showed an elevated number of nuclear projections and his fetal hemoglobin level was undetectable.

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Year:  1979        PMID： 489007     DOI： 10.1007/bf00399388

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


  18 in total

1.  FOETAL HAEMOGLOBIN AND NEUTROPHIL ANOMALY IN THE D1-TRISOMY SYNDROME.

Authors:  D POWARS; R ROHDE; D GRAVES
Journal:  Lancet       Date:  1964-06-20       Impact factor: 79.321

2.  DEVELOPMENTAL HEMOGLOBIN ANOMALIES IN A CHROMOSOMAL TRIPLICATION: D1 TRISOMY SYNDROME.

Authors:  E R HUEHNS; F HECHT; J V KEIL; A G MOTULSKY
Journal:  Proc Natl Acad Sci U S A       Date:  1964-01       Impact factor: 11.205

3.  Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proxim.

Authors:  A Schinzel; W Schmid
Journal:  Humangenetik       Date:  1974

4.  A simple method for R banding of human chromosomes, showing a pH-dependent connection between R and G bands.

Authors:  J Sehested
Journal:  Humangenetik       Date:  1974-01-22

5.  [Partial trisomy 13 in a family with balanced translocation (13 q-;16 q plus) (author's transl)].

Authors:  G Schwanitz; K P Grosse; U Semmelmayer; H Mangold
Journal:  Monatsschr Kinderheilkd       Date:  1974-06

6.  Trisomy for the proximal segment of the long arm of chromosome 13: a new entity?

Authors:  J I Escobar; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

7.  An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

Authors:  S E Bloom; C Goodpasture
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

8.  Quinacrine fluorescence and Q-banding patterns of human chromosomes. I. Effects of varying factors.

Authors:  C C Lin; H van de Sande; W K Smink; D R Newton
Journal:  Can J Genet Cytol       Date:  1975-03

9.  Nuclear anomalies of the neutrophil in a chromosomal triplication: the D1 (13-15) trisomy syndrome. An electron microscopic study.

Authors:  M A Lutzner; F Hecht
Journal:  Lab Invest       Date:  1966-03       Impact factor: 5.662

10.  Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.

Authors:  B Noel; B Quack; M O Rethore
Journal:  Clin Genet       Date:  1976-06       Impact factor: 4.438
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  5 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.  Familial translocation leading to partial trisomy 13: report of three cases.

Authors:  S A Tharapel; R C Lewandowski; M K Kukolich
Journal:  Indian J Pediatr       Date:  1984 Jul-Aug       Impact factor: 1.967

3.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

4.  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

5.  The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture.

Authors:  A Schinzel; W Schmid; M Fraccaro; L Tiepolo; O Zuffardi; J M Opitz; J Lindsten; P Zetterqvist; H Enell; C Baccichetti; R Tenconi; R A Pagon
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  5 in total

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