4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, developmental delay, growth retardation, Pierre Robin sequence, autistic spectrum and attention deficit-hyperactivity disorder, although not every patient shows the same features. Array comparative genomic hybridization (aCGH) use improves the detection of tiny chromosomal deletions and allows for a better understanding of genotype–phenotype correlations in affected patients. We report the case of a 6-year-old female patient showing mild dysmorphic features, mild mental disabilities and a coagulation disorder as a consequence of a de novo del(4)(q34.1) characterized by aCGH. A 6-year-old female patient exhibited special craniofacial features, such as backward-rotated ears, upslanted palpebral fissures, broad nasal bridges, anteverted nares, broad nasal alae, smooth philtrums, smooth nasolabial folds, thin lips, horizontal labial commissures, and retrognathia. In the oral cavity, maxillary deformation, a high arched palate, agenesis of both mandibular canines and fusion of two mandibular incisors were observed. She also displayed bilateral implantation of the proximal thumbs, widely spaced nipples, dorsal kyphosis, hyperlordosis, and clitoral hypertrophy. In addition, the patient presented with coagulopathy, psychomotor delay, attention deficit-hyperactivity disorder, and mild mental disability. A chromosomal study showed the karyotype 46,XX,del(4)(q34.1), while an aCGH analysis revealed an 18.9 Mb deletion of a chromosome 4q subtelomeric region spanning 93 known genes. The clinical manifestations of this patient were similar to those reported in other individuals with 4q deletion syndrome. Although most of the patients with a 4q34 terminal deletion share similarities, variations in phenotype are also common. In general, clinical effects of chromosomal deletion syndromes depend on the length of the deleted chromosomal segment and, consequently, on the number of lost genes; however, in all of these syndromes, there is no simple correlation between the phenotype and the chromosomal region involved, particularly in cases of 4q deletion.

中文翻译：

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具有轻度畸形特征和凝血障碍的女孩中从头 4q34.1 缺失的细胞遗传学特征

4q 缺失综合征是一种罕见的染色体疾病，大多是从头出现的。该综合征的特点是颅面畸形、手指异常、骨骼改变、心脏畸形、发育迟缓、生长迟缓、皮埃尔·罗宾序列、自闭症谱系和注意力缺陷多动障碍，尽管并非每个患者都表现出相同的特征。阵列比较基因组杂交 (aCGH) 的使用改善了微小染色体缺失的检测，并可以更好地了解受影响患者的基因型-表型相关性。我们报道了一名 6 岁女性患者的病例，该患者因以 aCGH 为特征的 de novo del(4)(q34.1) 而表现出轻度畸形特征、轻度精神障碍和凝血障碍。一名6岁女性患者表现出特殊的颅面特征，如耳朵后旋、睑裂上斜、鼻梁宽阔、鼻孔前倾、鼻翼宽阔、人中光滑、鼻唇沟光滑、嘴唇薄、唇水平连合等。下颌后缩。在口腔中，观察到上颌变形、高弓腭、双下颌尖牙发育不全以及两下颌切牙融合。她还表现出双侧拇指近端植入、乳头间距较宽、背侧后凸、脊柱前凸和阴蒂肥大。此外，患者还出现凝血功能障碍、精神运动迟缓、注意力缺陷多动障碍和轻度精神障碍。染色体研究显示核型为 46,XX,del(4)(q34.1)，而 aCGH 分析显示染色体 4q 亚端粒区域有 18.9 Mb 的缺失，涵盖 93 个已知基因。该患者的临床表现与其他 4q 缺失综合征患者的临床表现相似。尽管大多数 4q34 末端缺失的患者具有相似性，但表型的变异也很常见。一般来说，染色体缺失综合征的临床效果取决于缺失染色体片段的长度，从而取决于丢失基因的数量。然而，在所有这些综合征中，表型和所涉及的染色体区域之间不存在简单的相关性，特别是在 4q 缺失的情况下。