Literature DB >> 2912890

Familial transmission of 16p trisomy in an infant.

S M Jalal1, D W Day, M Garcia, T Benjamin, J Rogers.   

Abstract

Based on four reported cases including the present case, 16p trisomic infants have remarkably similar features. These are severe developmental delay, psychomotor retardation, typical facies, and anomalies of extremities.

Entities:  

Mesh：

Year:  1989        PMID： 2912890     DOI： 10.1007/BF00293904

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


  8 in total

1.  Partial trisomy 16q-.

Authors:  E Yunis; J T González; O M Torres de Caballero
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

2.  'De novo' trisomy 16q11 to pter.

Authors:  B Dallapiccola; P Curatolo; P Balestrazzi
Journal:  Hum Genet       Date:  1979-05-23       Impact factor: 4.132

3.  Segregation analysis in reciprocal translocation carriers.

Authors:  D L Petrosky; D S Borgaonkar
Journal:  Am J Med Genet       Date:  1984-09

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

Authors:  S H Roberts; D P Duckett
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

5.  Five familial cases with a trisomy 16p syndrome due to translocation.

Authors:  N J Leschot; J J De Nef; J P Geraedts; M J Becker-Bloemkolk; A Talma; J B Bijlsma; M Verjaal
Journal:  Clin Genet       Date:  1979-09       Impact factor: 4.438

6.  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

7.  Duplication of 16p from insertion of 16p into 16q with subsequent duplication due to crossing over within the inserted segment.

Authors:  M M Cohen; C Lerner; N E Balkin
Journal:  Am J Med Genet       Date:  1983-01

8.  ["De novo" partial trisomy 16p (author's transl)].

Authors:  J Gabarrón Llamas; D Cabrerizo Portero; F Montserrat Bernal; T Rodríguez Costa; C Cabrerizo Merino; F Rodríguez López
Journal:  An Esp Pediatr       Date:  1981-12
  8 in total
  3 in total

Review 1.  Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

Authors:  Brian P Brooks; Jeanne M Meck; Bassem R Haddad; Claude Bendavid; Delphine Blain; Jeffrey A Toretsky
Journal:  BMC Med Genet       Date:  2006-01-13       Impact factor: 2.103

2.  De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Authors:  Eva Maria Christina Schwaibold; Iris Bartels; Helmut Küster; Michael Lorenz; Peter Burfeind; Ronja Adam; Barbara Zoll
Journal:  Mol Cytogenet       Date:  2014-01-23       Impact factor: 2.009

3.  A rare description of pure partial trisomy of 16q12.2q24.3 and review of the literature.

Authors:  Joshua Manor; Daniela Dinu; Mahshid S Azamian; Weimin Bi; Sandra Darilek; Seema R Lalani
Journal:  Am J Med Genet A       Date:  2021-06-01       Impact factor: 2.578
  3 in total

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