Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G
Institut für Humangenetik, Universitätsklinikum, Essen, Germany.
Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498.
We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions of chromosome 4p. All patients presented with the typical facial gestalt, microcephaly, and profound mental retardation. Other clinical signs were low birth weight (10/13; 77%), postnatal short stature (8/12; 66%), muscular hypotonia (12/13; 92%), seizures (11/13; 85%), congenital heart defects (4/13; 31%), colobomata of iris (4/12; 33%), genital anomalies (4/13; 31%), deafness (3/13; 23%), and renal anomalies (3/13; 23%). The smallest deletion was a submicroscopic terminal deletion of nearly 2.5 Mb. The largest was a terminal deletion of nearly 30 Mb. Cleft lip/palate, preauricular pits/tags, and congenital heart defects were present only in patients with terminal deletions larger than 10 Mb. The deviations from mean birth weight, birth length, and postnatal head circumference correlated with the size of the deletion. Determining the parental origin of the deletion with microsatellite markers, the maternal allele was missing in three patients and the paternal allele in eight patients. Our observations support the existence of a partial genotype-phenotype correlation in Wolf-Hirschhorn syndrome.
我们对13例因4号染色体短臂新发缺失而患有沃尔夫-赫希霍恩综合征的患者（8名女性和5名男性，年龄6个月至13岁）进行了临床、细胞遗传学和分子分析。所有患者均表现出典型的面部形态、小头畸形和严重智力发育迟缓。其他临床体征包括低出生体重（10/13；77%）、出生后身材矮小（8/12；66%）、肌张力低下（12/13；92%）、癫痫发作（11/13；85%）、先天性心脏缺陷（4/13；31%）、虹膜缺损（4/12；33%）、生殖器异常（4/13；31%）、耳聋（3/13；23%）和肾脏异常（3/13；23%）。最小的缺失是近2.5 Mb的亚显微末端缺失。最大的是近30 Mb的末端缺失。唇腭裂、耳前凹/耳前赘生物和先天性心脏缺陷仅出现在末端缺失大于10 Mb的患者中。出生体重、出生身长和出生后头围与平均值的偏差与缺失大小相关。用微卫星标记确定缺失的亲本来源，3例患者的母本等位基因缺失，8例患者的父本等位基因缺失。我们的观察结果支持沃尔夫-赫希霍恩综合征中存在部分基因型-表型相关性。
