Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 [Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

Literature DB >> 797303

[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

N Ayraud, J Rovinski, J C Lambert, A Galiana.

Abstract

A case of interstitial deletion of the long arm of chromosome 7 with probable loss of segment 7q2 is reported in a infant with leprechaunism. This association suggests the possibility of a heterozygous deletion of the normal allele at the leprechaun locus.

Entities: Disease Species

Mesh：

Year: 1976 PMID： 797303

Source DB: PubMed Journal: Ann Genet ISSN： 0003-3995

Keyword Cloud
Cited

14 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. 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

[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

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. 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.

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

6. Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

7. Leprechaunism with mosaicism 46, XX/47, XX extra ring chromosome.

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).