Total: 1 |
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PMID (PMCID) | ||
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10756338 |
FEMALE | |
Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? | ||
Mau UA, Backsch C, Schaudt H, Trefz FK, Kaiser P. Am J Med Genet. 2000;91(3):180-4. |
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We describe a 3-year-old girl with partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set ears, dysphonic hoarse voice, hyperactivity, and small hands with proximal placement of the thumbs. |