Chase T R, Jalal S M, Martsolf J T, Wasdahl W A
Am J Med Genet. 1983 Feb;14(2):347-51. doi: 10.1002/ajmg.1320140214.
Duplication of 6q24 leads to 6qter was identified by GTG banding in an infant girl whose father was a balanced translocation carrier 46,XY,t(3;6)(p26 leads to q2402). At birth and at 4 mo she had proportionate short stature, microcephaly, asymmetric micrognathia, bow-shaped upper vermilion, long upper lip, submucous cleft palate, antimongoloid slant of palpebral fissures, telecanthus, prominent eyes, short neck with anterior and lateral webbing, short sternum, overlapping toes, wrist contractures, and hypertonicity. Later she was noted to have psychomotor retardation. Eleven previously published cases and our patient suggest that duplication of 6q (involving at least 6q25 leads to 6qter) produces a highly characteristic syndrome.
通过GTG显带技术，在一名父亲为平衡易位携带者46,XY,t(3;6)(p26导致q2402)的女婴中发现了6q24至6q末端的重复。出生时及4个月大时，她有匀称性身材矮小、小头畸形、不对称小颌畸形、弓形上唇、上唇长、黏膜下腭裂、睑裂反蒙古样倾斜、内眦距增宽、眼睛突出、短颈伴前部和外侧蹼状、胸骨短、脚趾重叠、手腕挛缩和张力亢进。后来发现她有精神运动发育迟缓。之前发表的11例病例及我们的患者表明，6q重复（至少涉及6q25至6q末端）会产生一种高度特征性的综合征。
