Literature DB >> 8487285

Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

U Trautmann1, R A Pfeiffer, U Seufert-Satomi, H U Tietze.   

Abstract

We report on a retarded infant with minor dysmorphic features in whom deletion 16 and duplication 19q were discovered. The karyotype is 46,XX,del(16) (q13.08-21.05),dup(19)(q13.13-13.2). The origin and significance of the aberrant chromosomes are unknown.

Entities:  

Mesh：

Year:  1993        PMID： 8487285      PMCID： PMC1016348          DOI： 10.1136/jmg.30.4.330

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


  11 in total

1.  Trisomy 19 q.

Authors:  M Lange; O S Alfi
Journal:  Ann Genet       Date:  1976-03

2.  Variation in the centromeric banding of chromosome 19.

Authors:  P E Crossen
Journal:  Clin Genet       Date:  1975-09       Impact factor: 4.438

Review 3.  Deletion of 16q with prolonged survival and unusual radiographic manifestations.

Authors:  A C Casamassima; R M Klein; P L Wilmot; P Brenholz; L R Shapiro
Journal:  Am J Med Genet       Date:  1990-12

4.  Interstitial deletion of 16(q13q22) in a newborn resulting from a paternal insertional translocation.

Authors:  S Edelhoff; B Maier; U Trautmann; R A Pfeiffer
Journal:  Ann Genet       Date:  1991

5.  16q21 is critical for 16q deletion syndrome.

Authors:  K Naritomi; N Shiroma; Y Izumikawa; K Sameshima; S Ohdo; K Hirayama
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

6.  G-banding patterns of high-resolution human chromosomes 6--22, X, and Y.

Authors:  J J Yunis; D W Ball; J R Sawyer
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

7.  Identical twins with deletion 16q syndrome: evidence that 16q12.2-q13 is the critical band region.

Authors:  F F Elder; J W Ferguson; L H Lockhart
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Centromere heteromorphism in chromosome 19.

Authors:  U Friedrich
Journal:  Clin Genet       Date:  1985-10       Impact factor: 4.438

9.  Interstitial deletion of chromosome 16q: 16q22 is critical for 16q- syndrome.

Authors:  M Fujiwara; T Yoshimoto; Y Morita; M Kamada
Journal:  Am J Med Genet       Date:  1992-06-01

10.  Trisomy for the distal third of the long arm of chromosome 19 in brother and sister.

Authors:  W Schmid
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132
View more
  1 in total

1.  Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.

Authors:  D Kotzot; M J Martinez; G Bagci; S Basaran; A Baumer; F Binkert; L Brecevic; C Castellan; K Chrzanowska; F Dutly; A Gutkowska; S B Karaüzüm; M Krajewska-Walasek; G Luleci; P Miny; M Riegel; S Schuffenhauer; H Seidel; A Schinzel
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.