Literature DB >> 8064823

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

E D'Alessandro1, C Ligas, M L Lo Re, M P Marcanio, T Gentile, G Del Porto.   

Abstract

A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. These findings suggested possible physical or functional partial monosomy of the 7q32 or 15q15 segments. The phenotype of this case is similar to other cases of 7q deletion.

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Year:  1994        PMID: 8064823      PMCID: PMC1049877          DOI: 10.1136/jmg.31.5.413

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


  29 in total

Review 1.  The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report.

Authors:  R S Verma; R A Conte; S E Sayegh; D Kanjilal
Journal:  Clin Genet       Date:  1992-02       Impact factor: 4.438

2.  Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

Authors:  G Higginson; D D Weaver; R E Magenis; G H Prescott; C Haag; D J Hepburn
Journal:  Clin Genet       Date:  1976-11       Impact factor: 4.438

3.  [Monosomy 7qter (author's transl)].

Authors:  C Turleau; J de Grouchy; F Perignon; G Lenoir
Journal:  Ann Genet       Date:  1979

4.  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

5.  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

6.  Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies.

Authors:  R Bernstein; B Dawson; G Morcom; J Wagner; T Jenkins
Journal:  Clin Genet       Date:  1980       Impact factor: 4.438

7.  Interstitial deletion of the long arm of chromosome 7.

Authors:  L Serup
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.

Authors:  K Taysi; R M Burde; J R Rohrbaugh
Journal:  Ann Genet       Date:  1982

9.  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

10.  Partial monosomy 7q syndrome due to distal interstitial deletion.

Authors:  R Stallard; R C Juberg
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

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