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Literature DB >> 192866

A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

B G Kousseff, L Y Hsu, S Paciuc, K Hirschhorn.

Abstract

We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.

Entities: Disease Species

Mesh：

Year: 1977 PMID： 192866 PMCID： PMC1013536 DOI： 10.1136/jmg.14.2.144

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

2 in total

1. Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

Authors: M H Shokeir; K L Ying; P Pabello
Journal: Clin Genet Date: 1973 Impact factor: 4.438

2. Ring chromosome 7 with variable phenotypic expression.

Authors: E H Zackai; W R Breg
Journal: Cytogenet Cell Genet Date: 1973

2 in total

11 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. 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

4. 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

5. Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

Authors: B Biederman; P Bowen
Journal: Hum Genet Date: 1978-02-23 Impact factor: 4.132

A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

1. Deletion of the long arm of chromosome no. 7: tentative assignment of the Kidd (Jk) locus.

2. Ring chromosome 7 with variable phenotypic expression.

Review 1. Genetic markers on chromosome 7.

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

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

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

5. Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

6. Hageman (factor XII) locus on 7q?: report of a second case with del(7)q35 and normal factor XII level.

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

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

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

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