Literature DB >> 856722

Ring 11 chromosome (46,xx,r11(p15q25)).

M Valente, H Muller, R S Sparkes.   

Abstract

A girl has a stable chromosome 11, which does not reveal loss of any chromosomal material. She demonstrates small stature, mild retardation, behavior problems, mild abnormal EEG, prominent sole furrow, increased deep tendon reflexes and hypothyroidism; this latter condition may have contributed to her retardation.

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Mesh：

Year:  1977        PMID： 856722     DOI： 10.1007/BF00446287

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


  12 in total

1.  Ring chromosome 6 in a malformed boy.

Authors:  F Salamanca-Gonez; S Nava; S Armendares
Journal:  Clin Genet       Date:  1975-11       Impact factor: 4.438

2.  Observations of de novo clones of cytogentically aberrant cells in primary fibroblast cell strains from phenotypically normal women.

Authors:  L G Littlefield; J B Mailhes
Journal:  Am J Hum Genet       Date:  1975-03       Impact factor: 11.025

3.  Irregular phenotypic expression of ring chromosomes.

Authors:  R Zdansky; M Andrle; E Bühler; T Tsuchimoto; W R Mayr; A Rett
Journal:  Humangenetik       Date:  1975

4.  Cytogenetically marked clones in human fibroblasts cultured from normal subjects.

Authors:  D G Harnden; P A Benn; J M Oxford; A M Taylor; T P Webb
Journal:  Somatic Cell Genet       Date:  1976-01

5.  [Ring chromosome 6. Karotype 46, XY, r (6)-45, XY,-6].

Authors:  H Van den Berghe; J P Fryns; J J Cassiman; G David
Journal:  Ann Genet       Date:  1974-03

6.  [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors:  R A Pfeiffer; H G Lenard
Journal:  Klin Padiatr       Date:  1973-05       Impact factor: 1.349

7.  Developmental abnormalities associated with a ring chromosome 6.

Authors:  C M Moore; R H Heller; G H Thomas
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

8.  Ring chromosome 7 with variable phenotypic expression.

Authors:  E H Zackai; W R Breg
Journal:  Cytogenet Cell Genet       Date:  1973

9.  A simple R banding technic.

Authors:  R S Verma; H A Lubs
Journal:  Am J Hum Genet       Date:  1975-01       Impact factor: 11.025

10.  Variegated translocation mosaicism in human skin fibroblast cultures.

Authors:  H Hoehn; E M Bryant; K Au; T H Norwood; H Boman; G M Martin
Journal:  Cytogenet Cell Genet       Date:  1975
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  10 in total

1.  Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

Authors:  S Daniele; F Pecorelli; L Tiepolo; R Armellini; F S Liotti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

2.  Ring chromosome 10 associated with multiple congenital malformations.

Authors:  G Simoni; F Rossella; L Dalprà; G Visconti; C Piria-Schwarz
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

Review 3.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

4.  Two cases of ring chromosome 11.

Authors:  D R Romain; O B Gebbie; R G Parfitt; L M Columbano-Green; R H Smythe; C J Chapman; A Kerr
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

5.  Ring 10 chromosome: 46,XX,r10(p15q26).

Authors:  R S Sparkes; S M Ling; H Muller
Journal:  Hum Genet       Date:  1978-09-19       Impact factor: 4.132

6.  Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Authors:  Alexandra Galvão Gomes; Carlos H Paiva Grangeiro; Luiz R Silva; Flávia G Oliveira-Gennaro; Ciro S Pereira; Tatiana M Joaquim; Rodrigo A Panepucci; Jeremy A Squire; Lucia Martelli
Journal:  Mol Syndromol       Date:  2016-11-17

7.  11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.

Authors:  M A Ridler; J A McKeown
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

Review 8.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

9.  De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Authors:  Ying Peng; Ruiyu Ma; Yingjie Zhou; Yan Xia; Juan Wen; Yanghui Zhang; Ruolan Guo; Haoxian Li; Qian Pan; Rui Zhang; Chengyuan Tang; Desheng Liang; Lingqian Wu
Journal:  Mol Cytogenet       Date:  2015-11-09       Impact factor: 2.009

10.  Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Authors:  Renata Lange; Caoê Von Linsingen; Fernanda Mata; Aline Barbosa Moraes; Mariana Arruda; Leonardo Vieira Neto
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2015-10-15
  10 in total

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