Literature DB >> 511142

An r(22)(p11 leads to q13) in a moderately mentally retarded girl.

V Aller, J A Abrisqueta, M L de Torres, M A Martín-Lucas, A Pérez-Castillo, J Del Mazo.   

Abstract

An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.

Entities:  

Mesh:

Year:  1979        PMID: 511142     DOI: 10.1007/bf00287170

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


  16 in total

1.  A note on a patient with a ring-22 chromosome identified by banding.

Authors:  A Stewart; B W Richards
Journal:  J Ment Defic Res       Date:  1976-06

2.  [22-ring chromosome: identification by controlled heat denaturation].

Authors:  C Stoll; A Rohmer; P Sauvage
Journal:  Ann Genet       Date:  1973-09

3.  Frequency of deletion of short arm satellites in acrocentric chromosomes.

Authors:  J Nielsen; U Friedrich; A B Hreidarsson
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

4.  Indications for chromosome analysis illustrated by a case of ring 22.

Authors:  P N Howard-Peebles
Journal:  J Hered       Date:  1977 Jul-Aug       Impact factor: 2.645

5.  Ring-G chromosome, a new G-deletion syndrome?

Authors:  R G Weleber; F Hecht; E R Giblett
Journal:  Am J Dis Child       Date:  1968-04

6.  Monozygotic twins with ring chromosome 22.

Authors:  R H Lindenbaum; M Bobrow; L Barber
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

7.  Identification of 21r and 22r chromosomes by quinacrine fluorescence.

Authors:  B F Crandall; F Weber; H M Muller; J K Burwell
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

8.  G-deletion syndrome II.

Authors:  P J Chauvel; J D Schindeler; R J Warren
Journal:  Humangenetik       Date:  1972

9.  Four new cases of ring 21 and 22 including familial transmission of ring 21.

Authors:  C G Palmer; M E Hodes; T Reed; J Kojetin
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318

10.  [The r(22) syndrome, Apropos of 4 new cases].

Authors:  M O Rethore; B Noël; J Couturier; M Prieur; J Lafourcade; J Lejeune
Journal:  Ann Genet       Date:  1976-06
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.