Literature DB >> 1605225

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria.

M Zollino1, P Mastroiacovo, G Zampino, P Mariotti, G Neri.   

Abstract

A previously unreported X-linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X-linked dominant trait with decreased penetrance and expressivity in carrier females.

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Mesh：

Year:  1992        PMID： 1605225     DOI： 10.1002/ajmg.1320430168

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

Authors:  V des Portes; J M Pinard; D Smadja; J Motte; O Boespflüg-Tanguy; M L Moutard; I Desguerre; P Billuart; A Carrie; T Bienvenu; M C Vinet; L Bachner; C Beldjord; O Dulac; A Kahn; G Ponsot; J Chelly
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

2.  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

Review 3.  Syndromes with lissencephaly.

Authors:  D T Pilz; O W Quarrell
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

4.  Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.

Authors:  G Woods; G Black; G Norbury
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

Review 5.  X-linked intellectual disability update 2017.

Authors:  Giovanni Neri; Charles E Schwartz; Herbert A Lubs; Roger E Stevenson
Journal:  Am J Med Genet A       Date:  2018-04-25       Impact factor: 2.802
  5 in total

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