Literature DB >> 1353666

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion.

M C Phelan1, G R Thomas, R A Saul, R C Rogers, H A Taylor, D A Wenger, H E McDermid.   

Abstract

We report on a 3-year-old boy with a terminal deletion of 22q. The activity of alpha-N-acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55.

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Year:  1992        PMID： 1353666     DOI： 10.1002/ajmg.1320430524

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


  14 in total

1.  Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Authors:  K F Doheny; H E McDermid; K Harum; G H Thomas; G V Raymond
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Two 22q telomere deletions serendipitously detected by FISH.

Authors:  K S Precht; C M Lese; R P Spiro; P R Huttenlocher; K M Johnston; J C Baker; S L Christian; K Kittikamron; D H Ledbetter
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318

Review 3.  Multi-system disorders of glycosphingolipid and ganglioside metabolism.

Authors:  You-Hai Xu; Sonya Barnes; Ying Sun; Gregory A Grabowski
Journal:  J Lipid Res       Date:  2010-03-08       Impact factor: 5.922

Review 4.  Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

Authors:  S J Knight; J Flint
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

5.  The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Authors:  A Slavotinek; E Maher; P Gregory; P Rowlandson; S M Huson
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

6.  Molecular cytogenetic analysis of telomere rearrangements.

Authors:  Christa Lese Martin; David H Ledbetter
Journal:  Curr Protoc Hum Genet       Date:  2015-01-20

7.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

8.  Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22.

Authors:  M B Coulter-Mackie; J Rip; M D Ludman; J Beis; D E Cole
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318

9.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors:  H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

10.  Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3.

Authors:  N J Nesslinger; J L Gorski; T W Kurczynski; S K Shapira; J Siegel-Bartelt; J P Dumanski; R F Cullen; B N French; H E McDermid
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025
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