Literature DB >> 490590

De novo interstitial deletion del(1)(p21p32).

M Bene, A Duca-Marinescu, D Ioan, C Maximilian.   

Abstract

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

Entities:  

Mesh：

Year:  1979        PMID： 490590      PMCID： PMC1012682          DOI： 10.1136/jmg.16.4.323

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


  9 in total

1.  Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1.

Authors:  K L Garver; A M Ciocco; N A Turack
Journal:  Clin Genet       Date:  1976-12       Impact factor: 4.438

2.  Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus.

Authors:  C G Palmer; J C Christian; A D Merritt
Journal:  Am J Hum Genet       Date:  1977-07       Impact factor: 11.025

3.  Primary hypothyroidism, growth hormone deficiency and congenital malformations in a child with the karyotype 46,XY,del(1)(q25q32).

Authors:  M Koivisto; H K Akerblom; M Remes; A de La Chapelle
Journal:  Acta Paediatr Scand       Date:  1976-07

4.  [De novo interstitial deletion Del (1) (q24 q32.1) in a malformed child].

Authors:  C Turleau; M Roubin; F Chavin-Colin; M Satge; J de Grouchy
Journal:  Ann Genet       Date:  1974-12

5.  Trisomy of the long arm of human chromosome 1.

Authors:  T H Norwood; H Hoehn
Journal:  Humangenetik       Date:  1974

6.  [A new malformation-retardation syndrome (Wiedemann and Tolksdorf) (author's transl)].

Authors:  H Schönenberg; M Habedank
Journal:  Monatsschr Kinderheilkd       Date:  1974-12

7.  Partial Trisomy 1, Karyotype 46,XY,12-,t(1q,12p)+.

Authors:  H Van den Berghe; M Van Eygen; J P Fryns; W Tanghe; H Verresen
Journal:  Humangenetik       Date:  1973-05-25

8.  [An uncommon malformation-retardation syndrome with "sheep-like face" and associated with autosomal structural aberration (author's transl)].

Authors:  H R Wiedemann; M Tolksdorf
Journal:  Klin Padiatr       Date:  1973-09       Impact factor: 1.349

9.  A partial trisomy of chromosome 1 in a family with a t(1q-;4q+) translocation.

Authors:  R L Neu; L I Gardner
Journal:  Clin Genet       Date:  1973-06       Impact factor: 4.438
  9 in total
  8 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

3.  Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Authors:  Carlos I Rivera-Pedroza; Jimena Barraza-García; Beatriz Paumard-Hernández; Julian Nevado; Carlos Orbea-Gallardo; Jaime Sánchez Del Pozo; Karen E Heath
Journal:  Mol Syndromol       Date:  2016-11-17

4.  Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings.

Authors:  Ann Genovese; Devin M Cox; Merlin G Butler
Journal:  J Pediatr Genet       Date:  2015-03

5.  Interstitial deletion 1p in a 30 year old woman.

Authors:  M B Petersen; M Warburg
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

6.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

7.  Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles.

Authors:  Gregorio Serra; Vincenzo Antona; Mario Giuffrè; Ettore Piro; Sergio Salerno; Ingrid Anne Mandy Schierz; Giovanni Corsello
Journal:  Ital J Pediatr       Date:  2022-03-04       Impact factor: 2.638

8.  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
  8 in total

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