McGregor-Schuerman Magda, Lo Fo Sang Audrey, Bihari Santusha, Ramdajal Natasja, Suijkerbuijk Ron F, van Ravenswaaij-Arts Conny Ma
Sint Vincentius Hospital, Dept. of Pediatrics, Paramaribo, Suriname.
P.C. Flu Institute for Biomedical Sciences, Paramaribo, Suriname.
Eur J Med Genet. 2020 Jun;63(6):103922. doi: 10.1016/j.ejmg.2020.103922. Epub 2020 Mar 30.
Aneuploidy mosaicism involving two complementary different autosomal trisomy cell lines is extremely rare. Although a mosaic double trisomy 8/trisomy 21 has been described in literature, this is the first report of Warkany (+8)-Down (+21) syndrome due to two complementary mosaic trisomy cell lines. The phenotype of the male patient with Warkany-Down syndrome includes upslanting palpebral fissures, hypertelorism, small low-set ears with unilateral aural stenosis, large and broad hands and feet with deep palmar and plantar creases, bilateral cryptorchidism, generalized mild hypotonia and transient neonatal thrombocytopenia. At the age of two years, his developmental quotient is around 50. His height, weight and head circumference are below the third centile. We speculate on the mechanism of origin of the complementary trisomy cell lines based on molecular cytogenetic studies that showed no evidence for a chimera.
涉及两个互补的不同常染色体三体细胞系的非整倍体嵌合体极为罕见。尽管文献中已描述过嵌合型双三体8/三体21，但这是首例因两个互补的嵌合三体细胞系导致的瓦尔卡尼（+8）-唐氏（+21）综合征报告。患有瓦尔卡尼-唐氏综合征的男性患者的表型包括睑裂向上倾斜、眼距增宽、低位小耳伴单侧耳道狭窄、手足大且宽，掌纹和足底纹深、双侧隐睾、全身轻度肌张力减退和短暂性新生儿血小板减少症。两岁时，其发育商约为50。他的身高、体重和头围均低于第三百分位。基于分子细胞遗传学研究（未显示嵌合体证据），我们推测了互补三体细胞系的起源机制。
