Valtat C, Galliano D, Mettey R, Toutain A, Moraine C
Service de Génétique, CHUR Bretonneau, Tours, France.
Clin Genet. 1992 Mar;41(3):159-66. doi: 10.1111/j.1399-0004.1992.tb03655.x.
We report on four patients with partial monosomy of the long arm of chromosome 6: two children presenting with an interstitial deletion del(6)(q14q16), the two others presenting with a terminal deletion del(6)(q25qter). These patients are compared with previous reports in the literature: 16 cases of terminal deletion and 17 cases of interstitial deletion. The deletions most often occur de novo. Mental retardation is always described. Dysmorphic facial features range between minor and major. There may be associated visceral abnormalities. After comparing the size and the localisation of the deletions with clinical data, we are now able to suggest a clinical localisation on chromosome 6.
我们报告了4例6号染色体长臂部分单体型患者：2例儿童表现为中间缺失del(6)(q14q16)，另外2例表现为末端缺失del(6)(q25qter)。将这些患者与文献中先前的报告进行了比较：16例末端缺失和17例中间缺失。这些缺失大多为新发。均有智力发育迟缓的描述。面部畸形特征从轻微到严重不等。可能伴有内脏异常。在将缺失的大小和定位与临床数据进行比较后，我们现在能够提出6号染色体上的临床定位。
