Literature DB >> 2231653

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

D R Romain1, J Goldsmith, H Cairney, L M Columbano-Green, R H Smythe, R G Parfitt.   

Abstract

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.

Entities:  

Mesh：

Year:  1990        PMID： 2231653      PMCID： PMC1017223          DOI： 10.1136/jmg.27.9.588

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


  7 in total

Review 1.  Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

Authors:  B Dallapiccola; B Marino; A Giannotti; G Valorani
Journal:  Ann 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.  Long arm deletion of chromosome 22.

Authors:  G Kirshenbaum; M Chmura; D P Rhone
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

4.  Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes.

Authors:  R J Warren; D L Rimoin; R L Summitt
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

5.  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

6.  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

7.  The gene encoding the human preproacrosin (ACR) maps to the q13-qter region on chromosome 22.

Authors:  I M Adham; K H Grzeschik; A H Geurts van Kessel; W Engel
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132
  7 in total
  6 in total

1.  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 2.  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

3.  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

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

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

5.  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.  Phelan-McDermid syndrome: a classification system after 30 years of experience.

Authors:  Katy Phelan; Luigi Boccuto; Craig M Powell; Tobias M Boeckers; Conny van Ravenswaaij-Arts; R Curtis Rogers; Carlo Sala; Chiara Verpelli; Audrey Thurm; William E Bennett; Christopher J Winrow; Sheldon R Garrison; Roberto Toro; Thomas Bourgeron
Journal:  Orphanet J Rare Dis       Date:  2022-01-29       Impact factor: 4.303
  6 in total

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