Literature DB >> 3791674

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.

J P Fryns, A Kleczkowska, M Buttiens, P Marien, H van den Berghe.   

Abstract

In this paper we describe two new patients with distal 11q monosomy and precisely localize breakpoints using high resolution banding techniques. The findings in these two patients further contribute to the precise localization of the crucial band for 11q monosomy syndrome as being at 11q24.1. A very distal 11q24.2 deletion in the second patient resulted in a completely different phenotype.

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Year:  1986        PMID： 3791674     DOI： 10.1111/j.1399-0004.1986.tb00605.x

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


  12 in total

1.  Assignment of the apolipoprotein A-I gene to 11q23 based on RFLP in a case with a partial deletion of chromosome 11, del(11)(q23.3----qter).

Authors:  T Arinami; T Hirano; K Kobayashi; Y Yamanouchi; H Hamaguchi
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

2.  Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation.

Authors:  C P Chen; F F Liu; S W Jan; C P Chen; C C Lan
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

3.  Deletion 11q23.3 without familial predisposition.

Authors:  C Hausmann; E Back; G Wolff; I Voiculescu
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

Review 4.  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

Review 5.  Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Authors:  J O Van Hemel; B Eussen; E Wesby-van Swaay; B A Oostra
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

6.  First Report of Jacobsen Syndrome with Dextrocardia Diagnosed with del(11)(q24q25).

Authors:  Sinem Yalcintepe; Drenushe Zhuri; Hazal Sezginer Guler; Engin Atli; Selma Demir; Emine Ikbal Atli; Cisem Mail; Hakan Gurkan
Journal:  Mol Syndromol       Date:  2022-02-01

7.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

8.  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 9.  Jacobsen syndrome.

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

10.  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
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