Literature DB >> 1633649

A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.

J P Park1, J B Moeschler, S Z Berg, R M Bauer, D H Wurster-Hill.   

Abstract

We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.

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Year:  1992        PMID： 1633649     DOI： 10.1111/j.1399-0004.1992.tb03631.x

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


  8 in total

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2.  Embryonic lethality and tumorigenesis caused by segmental aneuploidy on mouse chromosome 11.

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Review 3.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
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4.  A deficiency in the region homologous to human 17q21.33-q23.2 causes heart defects in mice.

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Journal:  Genetics       Date:  2006-02-19       Impact factor: 4.562

5.  Identification, characterization, and localization to chromosome 17q21-22 of the human TBX2 homolog, member of a conserved developmental gene family.

Authors:  D J Law; T Gebuhr; N Garvey; S I Agulnik; L M Silver
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6.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
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7.  Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Authors:  Tobias Laurell; Johanna Lundin; Britt-Marie Anderlid; Jerome L Gorski; Giedre Grigelioniene; Samantha J L Knight; Ana C V Krepischi; Agneta Nordenskjöld; Susan M Price; Carla Rosenberg; Peter D Turnpenny; Angela M Vianna-Morgante; Ann Nordgren
Journal:  Eur J Hum Genet       Date:  2013-01-30       Impact factor: 4.246

8.  A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.

Authors:  Xiuhong Pang; Huajie Luo; Yongchuan Chai; Xiaowen Wang; Lianhua Sun; Longxia He; Penghui Chen; Hao Wu; Tao Yang
Journal:  PLoS One       Date:  2015-03-27       Impact factor: 3.240
  8 in total

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