Estabrooks L L, Rao K W, Donahue R P, Aylsworth A S
Department of Pediatrics, University of North Carolina, Chapel Hill 27599-7220.
Am J Med Genet. 1990 Jul;36(3):306-9. doi: 10.1002/ajmg.1320360312.
We evaluated an infant because holoprosencephaly had been detected by prenatal ultrasound examination and magnetic resonance imaging (MRI). Postnatally, high-resolution cytogenetic studies showed a minute deletion of chromosome 21(q22.3). This patient lacks many of the characteristics associated with monosomy 21, partial monosomy 21, and ring 21 chromosome patients. She also lacks the midline facial abnormalities often seen with holoprosencephaly. The similarity in facial appearance between this case and one previously reported patient with holoprosencephaly and a ring chromosome 21 suggests a causal relationship between holoprosencephaly and deletion of chromosome 21(q22.3). These findings also suggest that infants and children with developmental delay and apparently normal facial appearance should be examined for holoprosencephaly and that all identified patients with holoprosencephaly need high-resolution cytogenetic studies with careful attention to the terminal portion of 21q.
我们对一名婴儿进行了评估，因为产前超声检查和磁共振成像（MRI）检测到了全前脑畸形。出生后，高分辨率细胞遗传学研究显示21号染色体（q22.3）存在微小缺失。该患者缺乏许多与21号染色体单体、21号染色体部分单体及21号环状染色体患者相关的特征。她也没有全前脑畸形常见的中线面部异常。该病例与之前报道的一名患有全前脑畸形和21号环状染色体的患者面部外观相似，提示全前脑畸形与21号染色体（q22.3）缺失之间存在因果关系。这些发现还表明，对于发育迟缓且面部外观明显正常的婴幼儿，应检查是否患有全前脑畸形，并且所有确诊的全前脑畸形患者都需要进行高分辨率细胞遗传学研究，并仔细关注21q的末端部分。
