Estabrooks L L, Rao K W, Driscoll D A, Crandall B F, Dean J C, Ikonen E, Korf B, Aylsworth A S
Cytogenetics Department, SmithKline Beecham Clinical Laboratories, Van Nuys, California, USA.
Am J Med Genet. 1995 Jul 17;57(4):581-6. doi: 10.1002/ajmg.1320570413.
We have collected and analyzed clinical information from 11 patients with chromosome 4p deletions or rearrangements characterized by various molecular techniques. Comparing the extent of these patients' deletions with their respective clinical presentations led to the proposal of a preliminary phenotypic map of chromosome 4p. This map consists of regions which, when deleted, are associated with specific clinical manifestations. Nonspecific changes such as mental and growth retardation are not localized, and probably result from the deletion of more than one gene or region. The region associated with most of the facial traits considered typical in Wolf-Hirschhorn syndrome (WHS) patients coincides with the currently proposed WHS critical region (WHSCR), but some anomalies commonly seen in WHS appear to map outside of the WHSCR. The observation of clinodactyly in 2 patients with nonoverlapping deletions allows assignment of these defects to at least 2 separate regions in 4p16. These initial observations and attempts at genotype/phenotype correlation lay the groundwork for identifying the genetic basis of these malformations, a common objective of gene mapping efforts and chromosome deletion studies.
我们收集并分析了11例经多种分子技术鉴定的4号染色体短臂缺失或重排患者的临床信息。通过比较这些患者的缺失范围与其各自的临床表现，我们初步绘制了4号染色体短臂的表型图谱。该图谱由一些区域组成，这些区域一旦缺失，就会出现特定的临床表现。诸如智力和生长发育迟缓等非特异性变化并无定位，可能是由于多个基因或区域缺失所致。与沃尔夫-赫希霍恩综合征（WHS）患者典型面部特征相关的区域与当前提出的WHS关键区域（WHSCR）重合，但WHS中常见的一些异常似乎位于WHSCR之外。在2例非重叠缺失患者中观察到的手指弯曲畸形，使我们将这些缺陷定位到4p16的至少2个独立区域。这些初步观察以及对基因型/表型相关性的尝试，为确定这些畸形的遗传基础奠定了基础，这是基因定位研究和染色体缺失研究的一个共同目标。
