Literature DB >> 3169747

Siblings with chromosome mosaicism, microcephaly, and growth retardation: the phenotypic expression of a human mitotic mutant?

J L Tolmie1, E Boyd, P Batstone, M E Ferguson-Smith, L al Roomi, J M Connor.   

Abstract

We report male and female siblings with extreme microcephaly and mental retardation, growth retardation, and multiple chromosome mosaicism. Mental retardation associated with chromosome mosaicism does not always carry a low recurrence risk.

Entities:  

Mesh：

Year:  1988        PMID： 3169747     DOI： 10.1007/bf00702872

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


  7 in total

1.  FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENE.

Authors:  H ZELLWEGER; G ABBO
Journal:  Lancet       Date:  1965-02-27       Impact factor: 79.321

Review 2.  C-anaphases in lymphocyte cultures versus premature centromere division syndromes.

Authors:  Y Chamla
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

Review 3.  The genetic control of meiosis.

Authors:  B S Baker; A T Carpenter; M S Esposito; R E Esposito; L Sandler
Journal:  Annu Rev Genet       Date:  1976       Impact factor: 16.830

4.  Trisomy 18 mosaicism: clues to the diagnosis.

Authors:  H N Bass; M Fox; E Wulfsberg; R S Sparkes; B F Crandall
Journal:  Clin Genet       Date:  1982-12       Impact factor: 4.438

5.  Cytogenetic findings in Roberts-SC phocomelia syndrome(s).

Authors:  D Tomkins; A Hunter; M Roberts
Journal:  Am J Med Genet       Date:  1979

6.  Trisomy 18 mosaicism in an adult with normal intelligence.

Authors:  G Kohn; M Shohat
Journal:  Am J Med Genet       Date:  1987-04

7.  Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing.

Authors:  J German
Journal:  Clin Genet       Date:  1979-12       Impact factor: 4.438
  7 in total
  5 in total

1.  Mitotic disturbance associated with mosaic aneuploidies.

Authors:  K Miller; W Müller; L Winkler; M R Hadam; J H Ehrich; S D Flatz
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

2.  Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

Authors:  C G Woods; A Bankier; J Curry; L J Sheffield; S F Slaney; K Smith; L Voullaire; D Wellesley
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

3.  Stable variants of sperm aneuploidy among healthy men show associations between germinal and somatic aneuploidy.

Authors:  Jiri Rubes; Miluse Vozdova; Wendie A Robbins; Olga Rezacova; Sally D Perreault; Andrew J Wyrobek
Journal:  Am J Hum Genet       Date:  2002-04-30       Impact factor: 11.025

4.  Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Authors:  Piero Pavone; Xena Giada Pappalardo; Naira Mustafa; Raffaele Falsaperla; Simona Domenica Marino; Giovanni Corsello; Sebastiano Bianca; Enrico Parano; Martino Ruggieri
Journal:  Neurol Sci       Date:  2022-07-09       Impact factor: 3.307

5.  Gradual reduction of BUBR1 protein levels results in premature sister-chromatid separation then in aneuploidy.

Authors:  Elodie Bohers; Nasrin Sarafan-Vasseur; Aurélie Drouet; Marianne Paresy; Jean-Baptiste Latouche; Jean-Michel Flaman; Richard Sesboüé; Thierry Frebourg
Journal:  Hum Genet       Date:  2008-10-19       Impact factor: 4.132
  5 in total

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