Literature DB >> 7682620

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

J Elliott1, E L Maltby, B Reynolds.   

Abstract

An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidism. Interstitial deletions of the long arm of chromosome 14 are extremely rare, but this case seems to confirm that the region q22 is specifically concerned with pituitary and eye development.

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Year:  1993        PMID： 7682620      PMCID： PMC1016311          DOI： 10.1136/jmg.30.3.251

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


  8 in total

Review 1.  A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.

Authors:  J L Gorski; W R Uhlmann; T W Glover
Journal:  Am J Med Genet       Date:  1990-12

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

Authors:  C P Bennett; D R Betts; M J Seller
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

Review 3.  Terminal deletion (14)(q32.3): a new case.

Authors:  N Telford; D A Thomson; M J Griffiths; S Ilett; J L Watt
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

4.  A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

Authors:  F S Yen; P E Podruch; B Weisskopf
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

5.  Deletion 14q and pericentric inversion 14.

Authors:  J Nielsen; A Homma; K Rasmussen; E Ried; K Sorensen; P Saldana-Garcia
Journal:  J Med Genet       Date:  1978-06       Impact factor: 6.318

6.  Distal monosomy 14 not associated with ring formation.

Authors:  S J Hreidarsson; J Stamberg
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

7.  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

8.  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
  8 in total
  20 in total

1.  Midbrain-hindbrain involvement in septo-optic dysplasia.

Authors:  M Severino; A E M Allegri; A Pistorio; B Roviglione; N Di Iorgi; M Maghnie; A Rossi
Journal:  AJNR Am J Neuroradiol       Date:  2014-04-24       Impact factor: 3.825

Review 2.  The role of homeodomain transcription factors in heritable pituitary disease.

Authors:  Kelly L Prince; Emily C Walvoord; Simon J Rhodes
Journal:  Nat Rev Endocrinol       Date:  2011-07-26       Impact factor: 43.330

3.  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

Review 4.  Delineation of 14q32.3 deletion syndrome.

Authors:  A P Ortigas; C K Stein; L L Thomson; J J Hoo
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

5.  Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.

Authors:  Ryusaku Matsumoto; Hidetaka Suga; Takashi Aoi; Hironori Bando; Hidenori Fukuoka; Genzo Iguchi; Satoshi Narumi; Tomonobu Hasegawa; Keiko Muguruma; Wataru Ogawa; Yutaka Takahashi
Journal:  J Clin Invest       Date:  2020-02-03       Impact factor: 14.808

6.  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

7.  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

8.  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

9.  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

10.  A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Authors:  Robert H Henderson; Kathleen A Williamson; Joanna S Kennedy; Andrew R Webster; Graham E Holder; Anthony G Robson; David R FitzPatrick; Veronica van Heyningen; Anthony T Moore
Journal:  Mol Vis       Date:  2009-11-21       Impact factor: 2.367
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