Literature DB >> 912940

7q deletion syndrome (7q32 leads to 7qter).

E L Harris, R S Wappner, C G Palmer, B Hall, N Dinno, M R Seashore, W R Breg.   

Abstract

Four independently ascertained children who presented with unusual facies and delayed mental and physical development were found to have a similar deletion of part of the long arm of chromosome 7 (46,XX or XY, del(7)(q32); 46,XX or XY,del(7)(pter leads to q32:)). Comparison of the findings of these four cases with one other case report of a similar deletion revealed similar dysmorphologic features in all five cases.

Entities:  

Mesh：

Year:  1977        PMID： 912940

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  20 in total

Review 1.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Two cases with different deletions of the long arm of chromosome 7.

Authors:  J M Klep-de Pater; J B Bijlsma; E M Bleeker-Wagemakers; H F de France; C M de Vries-Ekkers
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

3.  A girl with karyotype 46,XX,del(7)(pter leads to q32:).

Authors:  U Friedrich; O Osterballe; S Stenbjerg; J Jørgensen
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

4.  Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.

Authors:  K B Nielsen; F Egede; I Mouridsen; J Mohr
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

5.  A lethal presentation of de novo deletion 7q.

Authors:  L E McMorrow; I R Toth; M M Gluckson; A Leff; S R Wolman
Journal:  J Med Genet       Date:  1987-10       Impact factor: 6.318

6.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

Review 7.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

8.  Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

Authors:  M D Crawfurd; I Kessel; M Liberman; J A McKeown; P Y Mandalia; M A Ridler
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

9.  A case of partial 5q trisomy associated with partial 7q monosomy.

Authors:  S Hara; T Yamada; H Nakai; A Ohtani; K Mizuno
Journal:  Br J Ophthalmol       Date:  1986-08       Impact factor: 4.638

10.  Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter).

Authors:  P Franceschini; M C Silengo; G F Davi; M A Santoro; G Prandi; C Fabris
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132
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