Shokeir M H, Ray M, Hamerton J L, Bauder F, O'Brien H
J Med Genet. 1975 Mar;12(1):99-103. doi: 10.1136/jmg.12.1.99.
A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome.
本文报告了一名核型为46,XY,del(10)(p13)的新生儿男婴。其临床特征包括唇腭裂、耳前凹、低位畸形耳、眼反蒙古样倾斜、小头畸形、小颌畸形、先天性心脏病、肥厚性幽门狭窄、隐睾症以及皮纹异常。该患儿在3个月大时死于严重的泌尿道感染并伴有败血症并发症。提示此处描述的特征可能代表一种新的、临床上可识别的染色体综合征。