Fan Y S, Siu V M
Department of Laboratory Medicine, London Health Sciences Centre, London, Ontario, Canada.
Am J Med Genet. 2001 Aug 15;102(3):266-71. doi: 10.1002/ajmg.1460.
A derivative chromosome 8 was observed in a newborn boy who presented with low birth weight, multiple congenital anomalies, and dysmorphic face. The der(8) was further characterized at age 18 months by a high resolution G-banding analysis, spectral karyotyping, and fluorescence in situ hybridization (FISH) with multiple DNA probes. The karyotype was described as 46,XY,der(8)(qter-->q24.13::p21.3-->p23.3::p23.3-->qter), representing an inverted duplication of region 8p21.3-->p23.3 and a duplication of region 8q24.13-->qter, which attaches to the duplicated short arm segment at 8p21.3. Different from previously reported patients with an inverted duplication (8p), no deletion was detected in the distal region of 8p in this case. This young child had manifested a broad nasal bridge, micrognathia, cleft lip, hydrocephalus, partial agenesis of the corpus callosum, Dandy-Walker malformation, congenital heart defects, dysplastic kidneys, hydronephrosis, marked hypotonia, and significant psychomotor retardation. These features are compared with those commonly seen in cases with an inverted duplication of 8p and cases with a partial trisomy of 8q.
在一名出生体重低、患有多种先天性异常及面部畸形的男婴中观察到一条衍生8号染色体。在该男婴18个月大时，通过高分辨率G显带分析、光谱核型分析以及使用多种DNA探针的荧光原位杂交（FISH）技术对衍生8号染色体进行了进一步特征分析。其核型描述为46,XY,der(8)(qter→q24.13::p21.3→p23.3::p23.3→qter)，代表8号染色体短臂p21.3→p23.3区域的倒位重复以及8号染色体长臂q24.13→qter区域的重复，该重复部分连接于8号染色体短臂p21.3处的重复片段。与先前报道的倒位重复（8p）患者不同，该病例中未在8号染色体短臂远端区域检测到缺失。这名幼儿表现出鼻梁宽阔、小颌畸形、唇裂、脑积水、胼胝体部分发育不全、Dandy-Walker畸形、先天性心脏缺陷、肾发育不良、肾积水、明显的肌张力减退以及显著的精神运动发育迟缓。将这些特征与常见的8号染色体短臂倒位重复病例以及8号染色体长臂部分三体病例的特征进行了比较。
