Cario H, Bode H, Gustavsson P, Dahl N, Kohne E
Department of Pediatrics, University Children's Hospital Ulm, Germany.
Clin Genet. 1999 Jun;55(6):487-92. doi: 10.1034/j.1399-0004.1999.550616.x.
We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.
我们报告了一名患有先天性纯红细胞再生障碍性贫血[戴蒙德-布莱克范贫血（DBA）]以及严重先天性肌张力减退、巨头畸形、眼距过宽、额头宽阔高耸、内眦赘皮、面部肌张力减退伴张口呼吸和流涎、性格和蔼外向且存在总体精神运动发育迟缓的男孩。这些特征与X连锁FG综合征的表型相似。该男孩在4个月大时被诊断为DBA，并接受了输血和泼尼松龙治疗。他的核型为正常的46, XY，但对中期染色体进行的荧光原位杂交（FISH）分析显示19q13.2存在一个3兆碱基的缺失。该染色体区域此前已与DBA表型相关联，并且在一名DBA患者中已鉴定出一个19q13微缺失。此缺失与此处报告的缺失一致。我们认为我们患者的复杂表型，包括DBA以及相关特征，代表一种微缺失综合征。
