Literature DB >> 6937620

Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).

C E de Pablo, J M García Sagredo, M T Ferro, P Ferrando, C San Román.   

Abstract

A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion.

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Year:  1980        PMID： 6937620      PMCID： PMC1885930          DOI： 10.1136/jmg.17.6.483

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


  11 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.  Four further families informative for 1q and the Duffy blood group.

Authors:  P J Cook; B M Page; A W Johnston; W K Stanford; J Gavin
Journal:  Cytogenet Cell Genet       Date:  1978

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.  Centromere staining at meiosis in man.

Authors:  A C Chandley; J M Fletcher
Journal:  Humangenetik       Date:  1973-05-25

6.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

7.  Identification of human chromosomes by DNA-binding fluorescent agents.

Authors:  T Caspersson; L Zech; C Johansson; E J Modest
Journal:  Chromosoma       Date:  1970       Impact factor: 4.316

8.  Assignment of a molecular form of UDP glucose pyrophosphorylase (UGPP2) to chromosome 2 in man.

Authors:  T B Shows; J A Brown; A P Goggin; L L Haley; M G Byers; R L Eddy
Journal:  Cytogenet Cell Genet       Date:  1978

9.  Deletion in the long arm of chromosome 1 from a subject with multiple congenital anomalies. Respository identification No. GM-2025.

Authors:  G S Sekhon; R E Hillman; R Yu; M M Aronson; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1978

10.  Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation.

Authors:  G Schwanitz; P Schmid; C Hägele; H W Daffner; K P Grosse
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977
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  3 in total

1.  Molecular characterization of a patient with del(1)(q23-q25).

Authors:  B Franco; L W Lai; D Patterson; D H Ledbetter; B J Trask; G van den Engh; S Iannaccone; S Frances; P I Patel; J R Lupski
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

2.  Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Authors:  Deepika D'Cunha Burkardt; Jill A Rosenfeld; Maria L Helgeson; Brad Angle; Valerie Banks; Wendy E Smith; Karen W Gripp; Jessica Moline; Rocio T Moran; Dmitriy M Niyazov; Cathy A Stevens; Elaine Zackai; Robert Roger Lebel; Douglas G Ashley; Nancy Kramer; Ralph S Lachman; John M Graham
Journal:  Am J Med Genet A       Date:  2011-05-05       Impact factor: 2.802

3.  Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH.

Authors:  Gholamreza Shariati; Alihossein Saberi; Mohammad Hamid; Hamid Galehdari; Alireza Sedaghat; Nehzat Abdorasuli
Journal:  Clin Case Rep       Date:  2018-06-13
  3 in total

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