Literature DB >> 468236

'De novo' trisomy 16q11 to pter.

B Dallapiccola, P Curatolo, P Balestrazzi.   

Abstract

A de novo 16q- trisomy was found in a patient with severe mental retardation and mild physical abnormalities. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the two cases identified so far. The mild phenotypical effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.

Entities:  

Mesh：

Year:  1979        PMID： 468236

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


  4 in total

1.  [Identification by Q and G bands of chromosome anomalies in spontaneous abortion].

Authors:  J Boué; M J Daketsé; C Deluchat; N Ravisé; F Yvert; A Boué
Journal:  Ann Genet       Date:  1976-12

2.  A cytogenetic study of human spontaneous abortions using banding techniques.

Authors:  M R Creasy; J A Crolla; E D Alberman
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

3.  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

4.  Pseudohermaphroditism with clinical features of trisomy 19 in an infant trisomic for parts of chromosomes 16 and 18: 47,XY,der(18),t(16;18)(p12;q11)mat.

Authors:  L M Stern; A R Mureh
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318
  4 in total
  4 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

2.  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

Review 3.  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

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.