Literature DB >> 1856837

Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities.

C P Bennett1, D R Betts, M J Seller.   

Abstract

A fetus is described with anophthalmia, absent pituitary, hypoplastic adrenal glands and kidneys, absent left horn of the uterus, underdeveloped genitalia, and clinodactyly, with a deletion of 14(q22q23). A review of published reports found no similar deletion cases.

Entities:  

Mesh：

Year:  1991        PMID： 1856837      PMCID： PMC1016834          DOI： 10.1136/jmg.28.4.280

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


  5 in total

1.  [Bilateral anophthalmos. Facial anomalies and t(4;14) translocation].

Authors:  F Serville; A Broustet; J Peyresblanques; J Bouineau
Journal:  J Genet Hum       Date:  1974-12

2.  A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate.

Authors:  P D Buchanan; K W Rao; C L Doerr; A S Aylsworth
Journal:  Birth Defects Orig Artic Ser       Date:  1978

3.  Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia.

Authors:  L D Keppen; M C Brodsky; J M Michael; A R Poindexter
Journal:  Am J Med Genet       Date:  1990-07

4.  Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).

Authors:  Y Yamamoto; R Sawa; N Okamoto; A Matsui; M Yanagisawa; S Ikemoto
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

5.  Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; F Dore; J Seger; M D Dautzenberg; M Arthuis; C Jeanson
Journal:  Ann Genet       Date:  1984
  5 in total
  15 in total

1.  Association of common SIX6 polymorphisms with peripapillary retinal nerve fiber layer thickness: the Singapore Chinese Eye Study.

Authors:  Ching-Yu Cheng; R Rand Allingham; Tin Aung; Yih-Chung Tham; Michael A Hauser; Eranga N Vithana; Chiea Chuen Khor; Tien Yin Wong
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-12-23       Impact factor: 4.799

2.  Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

Authors:  Hana Abouzeid; Gaëlle Boisset; Tatiana Favez; Mohamed Youssef; Iman Marzouk; Nihal Shakankiry; Nader Bayoumi; Patrick Descombes; Céline Agosti; Francis L Munier; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2010-12-30       Impact factor: 11.025

Review 4.  A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Authors:  J Elliott; E L Maltby; B Reynolds
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

5.  Distinct cis-acting regions control six6 expression during eye field and optic cup stages of eye formation.

Authors:  Kelley L Ledford; Reyna I Martinez-De Luna; Matthew A Theisen; Karisa D Rawlins; Andrea S Viczian; Michael E Zuber
Journal:  Dev Biol       Date:  2017-04-21       Impact factor: 3.582

6.  The optx2 homeobox gene is expressed in early precursors of the eye and activates retina-specific genes.

Authors:  J Toy; J M Yang; G S Leppert; O H Sundin
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-01       Impact factor: 11.205

7.  Anophthalmia with cleft palate and micrognathia: a new syndrome?

Authors:  S R Phadke; A K Sharma; S S Agarwal
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

8.  A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

Authors:  Daniel Diaczok; Christopher Romero; Janice Zunich; Ian Marshall; Sally Radovick
Journal:  J Clin Endocrinol Metab       Date:  2008-08-26       Impact factor: 5.958

9.  Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.

Authors:  Faïza Lamine; Faouzi Kanoun; Melika Chihaoui; Alexandru Saveanu; Emna Menif; Anne Barlier; Alain Enjalbert; Thierry Brue; Hédia Slimane
Journal:  Pituitary       Date:  2012-12       Impact factor: 4.107

10.  Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Authors:  Preeti Bakrania; Maria Efthymiou; Johannes C Klein; Alison Salt; David J Bunyan; Alex Wyatt; Chris P Ponting; Angela Martin; Steven Williams; Victoria Lindley; Joanne Gilmore; Marie Restori; Anthony G Robson; Magella M Neveu; Graham E Holder; J Richard O Collin; David O Robinson; Peter Farndon; Heidi Johansen-Berg; Dianne Gerrelli; Nicola K Ragge
Journal:  Am J Hum Genet       Date:  2008-01-31       Impact factor: 11.025
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