Literature DB >> 7473657

Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

J S Barton1, J O'Loughlin, R T Howell, R L'e Orme.   

Abstract

We report an 18 month old girl with developmental delay, dysmorphic features, and a karyotype 46,XX,del (1) (p32.1p32.3). To our knowledge the clinical features associated with this deletion have not been reported previously.

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Year:  1995        PMID： 7473657      PMCID： PMC1051640          DOI： 10.1136/jmg.32.8.636

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


  3 in total

1.  Two cases of interstitial deletion 1p.

Authors:  M M Lai; M F Robards; A C Berry; C N Fear; C Hart
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).

Authors:  M Yoshino; Y Watanabe; N Harada; K Abe
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

Review 3.  Deletion of chromosome 1p: a short review.

Authors:  P J Howard; M Porteus
Journal:  Clin Genet       Date:  1990-02       Impact factor: 4.438
  3 in total
  4 in total

1.  A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

Authors:  Udo Koehler; Elke Holinski-Feder; Birgit Ertl-Wagner; Juergen Kunz; Arpad von Moers; Hubertus von Voss; Chayim Schell-Apacik
Journal:  Eur J Pediatr       Date:  2009-09-08       Impact factor: 3.183

2.  Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum.

Authors:  Ilan Gobius; Laura Morcom; Rodrigo Suárez; Jens Bunt; Polina Bukshpun; William Reardon; William B Dobyns; John L R Rubenstein; A James Barkovich; Elliott H Sherr; Linda J Richards
Journal:  Cell Rep       Date:  2016-10-11       Impact factor: 9.423

3.  Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.

Authors:  Jonathan D J Labonne; Yiping Shen; Il-Keun Kong; Michael P Diamond; Lawrence C Layman; Hyung-Goo Kim
Journal:  Mol Cytogenet       Date:  2016-03-17       Impact factor: 2.009

4.  A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.

Authors:  Mili Thakur; Doris Taha; Vinod K Misra
Journal:  J Endocr Soc       Date:  2017-02-28
  4 in total

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