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猫叫综合征是一种罕见的遗传性疾病。本文报告一例,为10月龄的女婴。她的哭声似猫叫,此外有满月脸,两眼间距增宽(约3.5厘米)和阔鼻梁等先天性异常。 患儿外周血淋巴细胞的常规染色体分析显示,在B组中有一个染色体的短臂缺少一小片段,其核型为46,XX,del(Bp)。在GTG显带标本中,表明该缺失短臂的那个染色体是第5号染色体,按照ISCN(1978),其断裂点位于短臂的1区3带,核型为46,XX,del(5)(p13),或为46,XX,del(5)(qter→p13:)。鉴于本例患者因喉骨软化而发出类似的猫叫声,故将喉骨软化这一症状定位于5p14和5p15带上。
Cats syndrome is a rare genetic disease. This article reports an example of a 10-month-old baby girl. Her crying feline call, in addition to a full moon face, widened eyes (about 3.5 cm) and wide nose bridge and other congenital anomalies. Routine chromosomal analysis of peripheral blood lymphocytes in children revealed a short fragment of one chromosome lacking a small fragment in group B with a karyotype of 46, XX, del (Bp). In GTG banding specimens, the chromosome with the missing short arm is chromosome 5 and the break point is in zone 1 zone 3 of the short arm according to ISCN (1978) with karyotypes of 46, XX, del (5) (p13) or 46, XX, del (5) (qter → p13 :). In view of this case of patients with laryngeal softening and issued a similar voice, so laryngeal softening the symptoms located in 5p14 and 5p15 zone.