Kulharya A S, Michaelis R C, Norris K S, Taylor H A, Garcia-Heras J
Medical College of Georgia, Department of Pediatrics, Augusta 30912, USA.
Am J Med Genet. 1998 Jun 5;77(5):391-4.
We present the clinical, cytogenetic, and molecular studies on a constitutional deletion of 19q ascertained prenatally due to decreased fetal activity and IUGR. Chromosome analysis by GTG banding on amniocytes suggested a del(19)(q13.1q13.3), but the analysis of microsatellites by PCR demonstrated that the deletion involved the distal segment of q12 and the proximal segment of q13.1 (15 cM). The severely affected female infant born at 38 weeks has clinical findings that may be related to haploinsufficiency of specific genes within 19q12.1-->q13.1 that control important processes of normal development and cell function.
我们报告了一例因胎儿活动减少和宫内生长受限而在产前确诊的19号染色体长臂结构缺失的临床、细胞遗传学和分子学研究。对羊水细胞进行GTG显带染色体分析提示为del(19)(q13.1q13.3)，但通过聚合酶链反应（PCR）对微卫星进行分析显示，该缺失涉及q12的远端片段和q13.1的近端片段（15厘摩）。这名在38周时出生的严重受累女婴的临床发现可能与19q12.1至q13.1区域内特定基因的单倍剂量不足有关，这些基因控制着正常发育和细胞功能的重要过程。
