Literature DB >> 1352356

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.

K Narahara1, Y Takahashi, M Murakami, K Tsuji, Y Yokoyama, R Murakami, S Ninomiya, Y Seino.   

Abstract

A 7 month old girl with psychomotor retardation, hypotonia, and minor malformations was found to have a terminal deletion of the long arm of chromosome 22, del(22)(q13.31). The partial deficiency of arylsulphatase A (ARSA) and the normal level of NADH diaphorase 1 (DIA1) suggests that the ARSA locus can be regionally assigned to 22q13.31----qter and the DIA1 locus can be excluded from the same segment. This report is the third published case with a terminal 22q deletion.

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Year:  1992        PMID： 1352356      PMCID： PMC1016000          DOI： 10.1136/jmg.29.6.432

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

Review 1.  Report of the committee on the genetic constitution of chromosome 22.

Authors:  J C Kaplan; B S Emanuel
Journal:  Cytogenet Cell Genet       Date:  1989

2.  Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

Authors:  G E Herman; F Greenberg; D H Ledbetter
Journal:  Am J Med Genet       Date:  1988-04

3.  New method for determining ferrihemoglobin reductase (NADH-methemoglobin reductase) in erythrocytes.

Authors:  E Hegesh; N Calmanovici; M Avron
Journal:  J Lab Clin Med       Date:  1968-08

4.  Deleted ring chromosome 22 in a mentally retarded boy.

Authors:  K H Gustavson; W Arancibia; U Eriksson; L Svennerholm
Journal:  Clin Genet       Date:  1986-04       Impact factor: 4.438

5.  A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.

Authors:  J L Watt; I A Olson; A W Johnston; H S Ross; D A Couzin; G S Stephen
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

6.  Cytogenetic findings in a prospective series of patients with DiGeorge anomaly.

Authors:  F Greenberg; F F Elder; P Haffner; H Northrup; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025
  6 in total
  6 in total

Review 1.  Gene therapy for metachromatic leukodystrophy.

Authors:  Jonathan B Rosenberg; Stephen M Kaminsky; Patrick Aubourg; Ronald G Crystal; Dolan Sondhi
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

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.  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

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

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

5.  Phenotypic correlations in a patient with ring chromosome 22.

Authors:  Osman Demirhan; Erdal Tunç
Journal:  Indian J Hum Genet       Date:  2010-05

6.  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
  6 in total

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