Diaz-Mares L, Molina B, Carnevale A
Servicio de Genetica medica, Instituto Nacional de Pediatria, Mexico City, Mexico.
Ann Genet. 1990;33(3):165-8.
A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings included severe growth and mental retardation, frequent respiratory infections, peculiar face, skeletal and craniofacial abnormalities, seizures, spasticity, cardiopulmonary, gastrointestinal and genitourinary alterations. These findings were compared to those of the 10 other previously reported cases of trisomy 9 mosaicism. This helps to define the most constant phenotypical characteristics and most frequent major malformations which occur in trisomy 9 mosaicism. It is noteworthy that the reported percentage of trisomic cells was different in lymphocytes and in fibroblasts in each case.
报道了一名患有额外9号染色体嵌合体的一岁女童。临床发现包括严重的生长发育迟缓和智力迟钝、频繁的呼吸道感染、特殊面容、骨骼和颅面异常、癫痫发作、痉挛、心肺、胃肠道和泌尿生殖系统改变。将这些发现与之前报道的其他10例9号染色体三体嵌合体病例的发现进行了比较。这有助于确定9号染色体三体嵌合体中最恒定的表型特征和最常见的主要畸形。值得注意的是，在每个病例中，淋巴细胞和成纤维细胞中三体细胞的报道百分比不同。
