Literature DB >> 3367352

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

A Serotkin1, J Stamberg, L Waber.   

Abstract

We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.

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Mesh：

Year:  1988        PMID： 3367352      PMCID： PMC1015509          DOI： 10.1136/jmg.25.4.258

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


  9 in total

1.  Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error.

Authors:  S Schwartz; M F Schwartz; S R Panny; C J Peterson; E Waters; M M Cohen
Journal:  Am J Hum Genet       Date:  1986-05       Impact factor: 11.025

2.  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

3.  Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.

Authors:  W Vogel; E Back; W Imm
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

4.  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

5.  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

6.  Brief clinical report: duplication of distal 17q: report of an observation.

Authors:  N F Naccache; A M Vianna-Morgante; A Richieri-Costa
Journal:  Am J Med Genet       Date:  1984-03

7.  The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm.

Authors:  D L Van Dyke; M J Miller; L Weiss
Journal:  Am J Med Genet       Date:  1983-07

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
  9 in total
  5 in total

Review 1.  Sibs lacking characteristic features of duplication of distal 17q.

Authors:  S Ohdo; H Madokoro; T Sonoda; K Ohba
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318

2.  Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridisation.

Authors:  H M Kingston; D H Ledbetter; P I Tomlin; K L Gaunt
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

3.  Duplication of distal 17q from a maternal translocation: an additional case with some unique features.

Authors:  A Caine; D M Knapton; R F Mueller; P J Congdon; D Haigh
Journal:  J Med Genet       Date:  1989-09       Impact factor: 6.318

4.  Mosaicism with a normal cell line and an autosomal structural rearrangement.

Authors:  R J Gardner; H E Dockery; P H Fitzgerald; R G Parfitt; D R Romain; N Scobie; R L Shaw; P Tumewu; A J Watt
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  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
  5 in total

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