| Autor: |
Penchaszadeh VB, Dowling PK, Davis JG, Schmidt R, Wapnir RA |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1987 Jul; Vol. 27 (3), pp. 701-6. |
| DOI: |
10.1002/ajmg.1320270325 |
| Abstrakt: |
We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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