Literature DB >> 669717

Ring chromosome 3 in a retarded boy.

R Witkowski, E Ullrich, U Piede.   

Abstract

We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.

Entities:  

Mesh：

Year:  1978        PMID： 669717     DOI： 10.1007/BF00291318

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


  7 in total

1.  A case of partial trisomy 3q.

Authors:  H Chiyo; Y Kuroki; I Matsui; N Niitsu; Y Nakogome
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

2.  Familial translocation (3p 15p) with partial trisomy for the upper arm of chromosome 3 in two sibs.

Authors:  B Say; N Barber; M Bobrow; K Jones; J G Coldwell
Journal:  J Pediatr       Date:  1976-03       Impact factor: 4.406

3.  [Partial 13 trisomy by maternal 46, XX, t (3; 13) (p 26; q 21) translocation].

Authors:  C Stoll; A Halb
Journal:  Pediatrie       Date:  1974 Oct-Nov

4.  Human ring chromosomes: a report of five cases.

Authors:  D J Picciano; C M Berlin; S L Davenport; C B Jacobson
Journal:  Ann Genet       Date:  1972-12

5.  Chromosomal abnormality (46,XX,3p plus) in a case of the Meckel syndrome.

Authors:  Y E Hsia; V Appadorai; W R Breg; R O Howard
Journal:  Birth Defects Orig Artic Ser       Date:  1974

6.  Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

Authors:  G Schwanitz; M Reither; G Grosse; C Hägele; U Gutfried
Journal:  Humangenetik       Date:  1975-06-19

7.  Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Authors:  P W Allderdice; N Browne; D P Murphy
Journal:  Am J Hum Genet       Date:  1975-11       Impact factor: 11.025
  7 in total
  2 in total

1.  Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.

Authors:  M Y Yip; H MacKenzie; A Kovacic; A McIntosh
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

2.  The phenotype of ring chromosome 3.

Authors:  G N Wilson; J Pooley; J Parker
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318
  2 in total

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