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Literature DB >> 7218280

The penta-X syndrome.

A Monheit, U Francke, B Saunders, K L Jones.

Abstract

A child is presented with a 49,XXXXX chromosomal constitution bringing to 12 the total number of children described with this karyotype. Comparison of this child's features with previously reported cases indicates a clinically recognisable specific pattern of malformations referred to as the penta-X syndrome. X chromosome replication studies using BrdU labelling in the patient's cells clearly showed that the four presumably inactive X chromosomes were late replicating but not in a strictly synchronous fashion.

Entities: Chemical Disease Species

Mesh：

Substances：
Bromodeoxyuridine

Year: 1980 PMID： 7218280 PMCID： PMC1048607 DOI： 10.1136/jmg.17.5.392

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

13 in total

The penta-X syndrome.

1. [49, XXXXX chromosome equipment in a girl with psychophysical underdevelopment].

2. Short stature and karyotype of mitotic cells in women.

3. Comparative clinical studies and X chromosome behaviour in a case of XXXX-XXXXX mosaicism.

4. Penta X (49,XXXXX) chromosome constitution: a case report.

5. The 49,XXXXX chromosome constitution: similarities to the 49,XXXXY condition.

6. A case of quintuple-X syndrome (49,XXXXX).

7. 48,XXXX-49,XXXXX mosaic: asynchronies among the late-replicating X chromosomes.

8. Letter: Pentasomy of X chromosome.

9. A female child with five X chromosomes.

10. Premature menopause in XO-XX-XXX-XXXXX mosaicism.

1. A new case of prenatally diagnosed pentasomy x: review of the literature.

2. Report of a new case with pentasomy X and novel clinical findings.

3. Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.