Literature DB >> 3568433

A male infant with holoprosencephaly, associated with ring chromosome 21.

D C Aronson, M C Jansweijer, J M Hoovers, P G Barth.   

Abstract

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10. This is the first report which links deletion of chromosome 21q to the holoprosencephaly phenotype.

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Mesh：

Year:  1987        PMID： 3568433     DOI： 10.1111/j.1399-0004.1987.tb02766.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Maternal transmission of ring chromosome 21.

Authors:  I Kennerknecht; G Barbi; W Vogel
Journal:  Hum Genet       Date:  1990-11       Impact factor: 4.132

3.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

4.  Growth hormone deficiency in children with chromosomal abnormalities.

Authors:  H P Schwarz; S C Duck
Journal:  Arch Dis Child       Date:  1990-03       Impact factor: 3.791

5.  Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.

Authors:  N Dahmane; G Charron; C Lopes; M L Yaspo; C Maunoury; L Decorte; P M Sinet; B Bloch; J M Delabar
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-26       Impact factor: 11.205

6.  Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.

Authors:  M Muenke; L J Bone; H F Mitchell; I Hart; K Walton; K Hall-Johnson; E F Ippel; J Dietz-Band; K Kvaløy; C M Fan
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

Review 7.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123
  7 in total

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