15q24.1微缺失综合征是最近描述的通常由非等位基因同源重组(NAHR)引起的病症。典型的临床特征包括出生前和出生后的生长迟缓,面部畸形,发育迟缓和智力障碍。非特异性泌尿生殖系统,骨骼,可能存在手指异常,尽管其他先天性畸形的发生率较低。因此,只有一例是产前报告的,复杂的基因型-表型相关性和遗传咨询。我们在产前发现了第二个病例,表现为大脑异常,包括脑积水,大头畸形,小脑发育不全,蚯蚓发育不全,菱形脑突触,右肾发育不全伴左肾重复和小阴茎。全基因组aCGH检测允许在闭经26周时诊断,在15q24.1-q24.2(arr[GRCh37]15q24.1q24.2(74,399,112_76,019,966)x1)的15号染色体长臂上有1.6Mb间质缺失。对文献进行了深入的回顾,以进一步描述产前临床特征和与表型有关的候选基因。脑畸形通常是非特异性的,但是小头畸形在产后似乎是最常见的。我们的病例是第一个报道的坦率小脑参与。
15q24.1 microdeletion syndrome is a recently described condition often resulting from non-allelic homologous recombination (NAHR). Typical clinical features include pre and post-natal growth retardation, facial dysmorphism, developmental delay and intellectual disability. Nonspecific urogenital, skeletal, and digit abnormalities may be present, although other congenital malformations are less frequent. Consequently, only one case was reported prenatally, complicating the genotype-phenotype correlation and the genetic counseling. We identified prenatally a second case, presenting with cerebral abnormalities including hydrocephaly, macrocephaly, cerebellum hypoplasia, vermis hypoplasia, rhombencephalosynapsis, right kidney agenesis with left kidney duplication and micropenis. Genome-wide aCGH assay allowed a diagnosis at 26 weeks of amenorrhea revealing a 1.6 Mb interstitial deletion on the long arm of chromosome 15 at 15q24.1-q24.2 (arr[GRCh37] 15q24.1q24.2(74,399,112_76,019,966)x1). A deep review of the literature was undertaken to further delineate the prenatal clinical features and the candidate genes involved in the phenotype. Cerebral malformations are typically nonspecific, but microcephaly appears to be the most frequent in postnatal cases. Our case is the first reported with a frank cerebellar involvement.