Literature DB >> 739528

Trisomy 16p in a liveborn infant and a review of partial and full trisomy 16.

S H Roberts, D P Duckett.   

Abstract

An abnormal female infant, who survived for 10 months with almost complete trisomy 16p and monosomy of sub-band 21q22.3, is described. The chromosome anomaly was the result of an unbalanced segregation of a maternal balanced translocation t(16;21)(p11;q22.3). The partial monosomy was considered to have had little or no adverse phenotypic effect. Cases with trisomy of chromosome 16 material are reviewed. It appears that while full trisomy 16 always results in early spontaneous abortion, trisomy 16p or 16q may be compatible with limited postnatal survival.

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Year:  1978        PMID: 739528      PMCID: PMC1013735          DOI: 10.1136/jmg.15.5.375

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  36 in total

1.  CHROMOSOME STUDIES ON SPONTANEOUS ABORTIONS.

Authors:  T M CLENDENIN; K BENIRSCHKE
Journal:  Lab Invest       Date:  1963-12       Impact factor: 5.662

2.  TRISOMY OF AUTOSOME 16.

Authors:  F J LEWIS; J M HYMAN; M MACTAGGART; R H POULDING
Journal:  Nature       Date:  1963-07-27       Impact factor: 49.962

3.  [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

4.  Metaphyseal dysostosis. Review of literature; study of a case with cytogenetic analysis.

Authors:  B J SCHMIDT; W BECAK; M L BECAK; I SOIBELMAN; A S da QUEIROZ; A P LORGA; F SECAF; C F ANTONIO; A A de CARVALHO
Journal:  J Pediatr       Date:  1963-07       Impact factor: 4.406

5.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  Banding analysis of abnormal karyotypes in spontaneous abortion.

Authors:  T Kajii; K Oama; N Niikawa; A Ferrier; S Avirachan
Journal:  Am J Hum Genet       Date:  1973-09       Impact factor: 11.025

8.  Chromosome abnormalities in early spontaneous abortions.

Authors:  D T Arakaki; S H Waxman
Journal:  J Med Genet       Date:  1970-06       Impact factor: 6.318

9.  Chromosome anomalies as a cause of spontaneous abortion.

Authors:  D H Carr
Journal:  Am J Obstet Gynecol       Date:  1967-02-01       Impact factor: 8.661

10.  Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Authors:  S R Young; D M Donovan; H A Greer; K Burch; D C Potter
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

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  12 in total

1.  Familial transmission of 16p trisomy in an infant.

Authors:  S M Jalal; D W Day; M Garcia; T Benjamin; J Rogers
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

Review 2.  Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism.

Authors:  E M Kuhn; G E Sarto; B J Bates; E Therman
Journal:  Hum Genet       Date:  1987-11       Impact factor: 4.132

3.  Partial trisomy 16p due to maternal balanced translocation.

Authors:  L E McMorrow; S Bornstein; R H Fischer; M M Gluckson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

4.  Trisomy 16q21 = to qter.

Authors:  A Garau; G Crisponi; D Peretti; R Vanni; O Zuffardi
Journal:  Hum Genet       Date:  1980-02       Impact factor: 4.132

5.  Ring chromosome 16.

Authors:  L Neidengard; R S Sparkes
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Partial trisomy for long arm of chromosome 16.

Authors:  K E Buckton; D G Barr
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

7.  Trisomy 16q arising from a maternal 15p;16q translocation.

Authors:  M A Ridler; J A McKeown
Journal:  J Med Genet       Date:  1979-08       Impact factor: 6.318

8.  High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Authors:  D F Callen; H Eyre; S Lane; Y Shen; I Hansmann; N Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

9.  Mosaic trisomy 16 in a live newborn infant.

Authors:  N J Gilbertson; J W Taylor; I Z Kovar
Journal:  Arch Dis Child       Date:  1990-04       Impact factor: 3.791

10.  Partial trisomy 16 as a result of familial 16;20 translocation.

Authors:  E V Davison; J R Beesley
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

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