Literature DB >> 8182726

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

H Y Kroes1, J H Tuerlings, R Hordijk, N R Folkers, L P ten Kate.   

Abstract

We report a case of del(9)(q22q32) in a severely mentally retarded boy. The most prominent clinical features are short stature, microcephaly, dysmorphic facies, and delayed bone age. Although six cases of this deletion have now been reported, confirmation of a definite syndrome is not yet possible.

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Mesh：

Year:  1994        PMID： 8182726      PMCID： PMC1049682          DOI： 10.1136/jmg.31.2.156

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


  2 in total

1.  De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

Authors:  K L Ying; C J Curry; K B Rajani; S H Kassel; R S Sparkes
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

Review 2.  Patients with deletions of 9q22q34 do not define a syndrome: three case reports and a literature review.

Authors:  S A Farrell; J Siegel-Bartelt; I Teshima
Journal:  Clin Genet       Date:  1991-09       Impact factor: 4.438
  2 in total
  3 in total

1.  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

2.  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

3.  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
  3 in total

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