Literature DB >> 2494886

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism.

R A Helmuth1, D D Weaver, E R Wills.   

Abstract

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

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Year:  1989        PMID： 2494886     DOI： 10.1002/ajmg.1320320207

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

Review 1.  Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

Authors:  C P Chen; C C Lee; L F Chen; C Y Chuang; S W Jan; B F Chen
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 2.  Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases.

Authors:  E K Pivnick; G V Velagaleti; R S Wilroy; M E Smith; S R Rose; R E Tipton; A T Tharapel
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

3.  Clinical and molecular characterization of patients with distal 11q deletions.

Authors:  L A Penny; M Dell'Aquila; M C Jones; J Bergoffen; C Cunniff; J P Fryns; E Grace; J M Graham; B Kousseff; T Mattina
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 4.  Jacobsen syndrome.

Authors:  Teresa Mattina; Concetta Simona Perrotta; Paul Grossfeld
Journal:  Orphanet J Rare Dis       Date:  2009-03-07       Impact factor: 4.123

5.  Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

Authors:  Emmanouil Manolakos; Sandro Orru; Rosita Neroutsou; Konstantinos Kefalas; Eirini Louizou; Ioannis Papoulidis; Loretta Thomaidis; Panagiotis Peitsidis; Sotirios Sotiriou; George Kitsos; Panagiota Tsoplou; Michael B Petersen; Aikaterini Metaxotou
Journal:  Mol Cytogenet       Date:  2009-12-09       Impact factor: 2.009
  5 in total

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