Literature DB >> 2260595

Deletion of 16q with prolonged survival and unusual radiographic manifestations.

A C Casamassima1, R M Klein, P L Wilmot, P Brenholz, L R Shapiro.   

Abstract

Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.

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Year:  1990        PMID: 2260595     DOI: 10.1002/ajmg.1320370414

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


  6 in total

1.  High-resolution mapping of a linkage group on mouse chromosome 8 conserved on human chromosome 16Q.

Authors:  J Becker-Follmann; A Gaa; E Baùsch; E Natt; G Scherer; O von Deimling
Journal:  Mamm Genome       Date:  1997-03       Impact factor: 2.957

2.  Simultaneous de novo interstitial deletion of 16q21 and intercalary duplication of 19q in a retarded infant with minor dysmorphic features.

Authors:  U Trautmann; R A Pfeiffer; U Seufert-Satomi; H U Tietze
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

3.  Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.

Authors:  K A Rack; P C Harris; A B MacCarthy; R Boone; H Raynham; M McKinley; M Fitchett; C M Towe; P Rudd; J A Armour
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

Review 4.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318

5.  High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Authors:  D F Callen; H Eyre; S Lane; Y Shen; I Hansmann; N Spinner; E Zackai; D McDonald-McGinn; S Schuffenhauer; J Wauters
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

6.  Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome.

Authors:  Anna Lengyel; Éva Pinti; Thomas Eggermann; György Fekete; Irén Haltrich
Journal:  Mol Syndromol       Date:  2021-07-15
  6 in total

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