Literature DB >> 505084

A teen-ager with 46,X,del(X)(q21).

P K Srivastava, F Fristoe, R E McDavid, J F Townsend.   

Abstract

A 19-year-old woman has a chromosome constitution of 46,X,del (X) (pter leads to q21:). X chromatin masses seen in buccal smears were fewer and smaller than normal. The deleted X has more darkly stained regions around the centromere, and the short arm is also shorter. She is 155.5 cm tall and the breasts are normally developed, as are the external genitalia; however, she had primary amenorrhea. There are no evocative somatic malformation of Turner's syndrome.

Entities:  

Mesh:

Year:  1979        PMID: 505084     DOI: 10.1097/00007611-197911000-00033

Source DB:  PubMed          Journal:  South Med J        ISSN: 0038-4348            Impact factor:   0.954


  3 in total

1.  X long-arm deletions. A review of non-mosaic cases studied with banding techniques.

Authors:  L Skibsted; H Westh; E Niebuhr
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 3.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.