Literature DB >> 2664178

Sibs lacking characteristic features of duplication of distal 17q.

S Ohdo1, H Madokoro, T Sonoda, K Ohba.   

Abstract

Two brothers with karyotype 46,XY,-16,+der(16),t(16;17)(q24.3;q25.1)pat are presented. It is commonly thought that duplication of distal 17q results in a clinically recognisable syndrome. Although our cases had several features often seen in patients with autosomal chromosome aberrations, they did not have any of the specific features found in other patients with this duplication.

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Year:  1989        PMID： 2664178      PMCID： PMC1015653          DOI： 10.1136/jmg.26.7.465

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


  11 in total

1.  Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.

Authors:  A Serotkin; J Stamberg; L Waber
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

2.  Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.

Authors:  A Robb; L Forsyth; J Tolmie
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

3.  Partial duplication of distal 17q.

Authors:  J Bridge; W Sanger; G Mosher; B Buehler; C Hearty; A Olney; R Fordyce
Journal:  Am J Med Genet       Date:  1985-10

4.  Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder.

Authors:  M S Berberich; J C Carey; H J Lawce; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1978

5.  Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

Authors:  J P Fryns; C Parloir; H Van den Berghe
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

6.  Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

Authors:  J U Gallien; R L Neu; R J Wynn; N Steinberg-Warren; R M Bannerman
Journal:  Am J Med Genet       Date:  1981

7.  A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

Authors:  D J Shawe; C Fear; W J Appleyard
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

8.  De novo distal trisomy 17q.

Authors:  E Orye; H van Bever
Journal:  Ann Genet       Date:  1985

9.  A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.

Authors:  B Parcheta; W Skawiński; L Wiśniewski; E Piontek; A Gutkowska; K Wermeński
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

10.  Distal trisomy 17q.

Authors:  C Turleau; J de Grouchy; J P Bouveret
Journal:  Clin Genet       Date:  1979-07       Impact factor: 4.438
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  2 in total

1.  Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Authors:  Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan P M de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2009-11-18       Impact factor: 4.246

2.  A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.

Authors:  Jariya Upadia; Joseph B Philips; Nathaniel H Robin; Edward J Lose; Fady M Mikhail
Journal:  Clin Case Rep       Date:  2018-02-14
  2 in total

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