Interstitial 7q deletion [46,XY,del (7) (pter → cen::q112 → qter)] in a retarded quadriplegic boy with normal beta glucuronidase

Author:

Frydman Moshe,Steinberger Julia,Shabtai Fiorella,Steinherz Reuben,Opitz John M.,Reynolds James F.

Publisher

Wiley

Subject

Genetics (clinical)

Reference11 articles.

1. Triplex gene dosage effect for β-glucronidase and possible assignment to band q22 in a partial duplication 7q

2. Interstitial deletion of chromosome 7: A case report and review of the literature

3. (1976): Assignment of human genes: β-glucuronidase to chromosome 7, adenylate kinase- 1 to 9, a second enzyme with enolase activity to 12 and mitochondrial IDH to 15. In Baltimore Conference (1975): Third international workshop on human gene mapping. Birth Defects XII(7): 142-148.

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

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