Literature DB >> 1773536

Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.

S A Farrell1, J Siegel-Bartelt, I Teshima.   

Abstract

Three children with deletions involving the 9q22q34 region are described. A review of clinical features of these three new patients and seven previously reported ones did not demonstrate a recognizable dysmorphic pattern. Our cases illustrate the need for repeat karyotyping at higher levels of resolution when there is a suspicion of a chromosome anomaly, since each deletion was missed on initial analysis.

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Year:  1991        PMID: 1773536     DOI: 10.1111/j.1399-0004.1991.tb03078.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  7 in total

Review 1.  A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

Authors:  H Ayyash; R Mueller; E Maltby; P Horsfield; N Telford; R Tyler
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.

Authors:  M Oldridge; I K Temple; H G Santos; R J Gibbons; Z Mustafa; K E Chapman; J Loughlin; A O Wilkie
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  9q22 Deletion--first familial case.

Authors:  Linda Siggberg; Maarit Peippo; Marjatta Sipponen; Taina Miikkulainen; Keiko Shimojima; Toshiyuki Yamamoto; Jaakko Ignatius; Sakari Knuutila
Journal:  Orphanet J Rare Dis       Date:  2011-06-22       Impact factor: 4.123

Review 4.  Another patient with an interstitial deletion of chromosome 9: case report and a review of six cases with del(9)(q22q32).

Authors:  H Y Kroes; J H Tuerlings; R Hordijk; N R Folkers; L P ten Kate
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

5.  A novel familial 9q31.2q32 microdeletion: Muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature.

Authors:  Anand K Ramineni; Trent Burgess; Penny Cruickshanks; David Coman
Journal:  Clin Case Rep       Date:  2019-01-07

6.  A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

Authors:  Laura Pölsler; Ulrich A Schatz; Burkhard Simma; Johannes Zschocke; Sabine Rudnik-Schöneborn
Journal:  Am J Med Genet A       Date:  2020-01-08       Impact factor: 2.802

7.  Chromosomal microarray analysis as the first-tier test for the identification of pathogenic copy number variants in chromosome 9 pericentric regions and its challenge.

Authors:  Jia-Chi Wang; Fatih Z Boyar
Journal:  Mol Cytogenet       Date:  2016-08-10       Impact factor: 2.009

  7 in total

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