Medical Faculty, Skopje, N Macedonia.
Medical Centre Kumanovo, N Macedonia.
Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2021 Oct 26;42(2):91-94. doi: 10.2478/prilozi-2021-0026.
Potocki-Lupski syndrome (PTLS) is a contiguous gene syndrome caused by duplication of chromosome 17p11.2. PTLS is characterized by hypotonia, failure to thrive, congenital anomalies (particularly of the cardiovascular system), intellectual disability, and behavioural disturbances. The patient was a full-term baby girl, 2,750 grams at birth, delivered via an uncomplicated vaginal delivery with pronounced hypotonia at birth. Nevertheless, there was failure to thrive (weight 7.6 kg; 2.8 SD). Micrognathia, epicanthal skin folds, and megalocornea were noticeable. There was a harsh continuous systolic murmur, and the ultrasound of the heart revealed a persistent arteriosus duct which was surgically closed. At the age of 18 months, the girl could not sit without support, and she could not utter simple words. The girl is often moody, angry, and aggressive. She is hyperactive and unable to establish contacts with family members. A 17p12-p11.2 microduplication was identified via MLPA. Muscle hypotonia, congenital heart malformation, failure to thrive, developmental delay, behavioural disturbances (or autism spectrum disorder), and intellectual disability are early signs of PTLS. The presence of PTLS was proven by an MLPA analysis.
波托茨基-卢普斯基综合征（PTLS）是一种由 17p11.2 染色体重复引起的连续基因综合征。PTLS 的特征是肌张力低下、生长不良、先天性异常（特别是心血管系统）、智力障碍和行为障碍。患者是一名足月女婴，出生体重 2750 克，经阴道分娩，出生时肌张力明显低下。然而，生长不良（体重 7.6 公斤；2.8SD）。小颌畸形、内眦赘皮和巨角膜是明显的。有粗糙的持续收缩期杂音，心脏超声显示动脉导管未闭，经手术关闭。在 18 个月大时，女孩无法在没有支撑的情况下坐立，也无法说出简单的单词。女孩经常情绪不稳定、易怒和攻击性强。她多动，无法与家人建立联系。通过 MLPA 鉴定出 17p12-p11.2 微重复。肌肉张力低下、先天性心脏病、生长不良、发育迟缓、行为障碍（或自闭症谱系障碍）和智力障碍是 PTLS 的早期迹象。通过 MLPA 分析证实了 PTLS 的存在。
