Lin A E, Garver K L, Diggans G, Clemens M, Wenger S L, Steele M W, Jones M C, Israel J
Department of Medical Genetics, Western Pennsylvania Hospital, Pittsburgh, 15224.
Am J Med Genet. 1988 Nov;31(3):533-48. doi: 10.1002/ajmg.1320310308.
We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.
我们回顾了45例4号染色体长臂缺失的患者。其中41例为既往报道（25例为末端缺失，16例为中间缺失），4例为新的末端缺失病例。在29例末端缺失的患者中，18例在4q31处缺失，4例在4q32至qter处缺失，他们具有可识别的表型，包括颅骨形状异常、眼距过宽、腭裂、耳廓明显低位异常、鼻梁异常的短鼻、几乎具有诊断意义的第五指和指甲尖、先天性心脏和泌尿生殖系统缺陷、中度至重度智力发育迟缓、出生后生长发育不良以及肌张力减退。6例在4q33处缺失的患者和1例在4q34处缺失的患者受影响程度较轻。一般来说，4q31近端各种中间缺失的患者表型特异性较低，尽管也存在智力发育迟缓和轻微的颅面异常。有3例患斑驳病，1例患里格尔综合征。我们得出结论，4号染色体q末端（4q31至qter）缺失似乎会产生一种独特的畸形（MCA/MR）综合征，其中表型与缺失的染色体物质数量相关，并且与4q中间缺失相关的更具变异性的表型不同。
