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當12號染色體短臂（12p）的短臂四面體由於未知原因而發生時，帕利斯特-基利安馬賽克症候群（PKS）是一種染色體異常。

PKS具有以下特徵：

  • 低肌張力

  • 該綜合徵常見的面部特徵-前額高，鼻樑寬，眼之間寬

  • 出生時頭皮稀疏

  • 高弓形pa

  • 色素沉著不足

  • 額外的乳頭

  • 認知和發育延遲。儘管大多數PKS兒童都有這些延誤，但許多兒童只是輕度殘障。

  • 肌疝

PKS隨機發生，並且原因未知。人們認為世界上診斷出的PKS病例少於500例，但是，費城兒童醫院的醫生認為PKS的發病率要高得多！他們認為僅在美國就可能有多達2,000例病例。那麼為什麼這些數字沒有得到反映呢？可能有很多情況，但它們仍未得到診斷。這些未診斷病例的主要原因是測試方法。 PKS可以通過羊膜穿刺術在子宮內進行診斷，儘管有時甚至會產生假陰性。

出生後，最好通過頰塗片檢查或皮膚活檢來進行診斷。新的陣列血液測試可以非常準確。幾天后，體內的血細胞迅速再生，並且鑲嵌細胞離開血流，通過血液檢查作出的診斷尚無定論或假陰性。如果您有任何理由相信您的孩子可能患有綜合症，請進行口腔塗片檢查。

PKS has the following characteristics:​

  • low muscle tone

  • sparse scalp hair at birth

  • high, arched palate

  • hypopigmentation

  • diaphragmatic hernias

  • extra nipples

  • facial features that are common to the syndrome-high forehead, broad nasal bridge, wide space between the eyes

  • cognitive and developmental delays. Although most PKS children have these delays, many children are only mildly handicapped.​

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PKS Kids Scan

​PKS happens randomly and for no known reason. It is thought that there are fewer than 500 diagnosed cases of PKS in the world, however, doctors at Children's Hospital in Philadelphia believe that the incidence of PKS is much higher! They feel there may be as many as 2,000 cases in the United States alone. So why aren't these numbers reflected? It is likely that there may be this many cases, but they are going undiagnosed. The main cause of these undiagnosed cases is the method of testing. PKS can be diagnosed in utero via amniocentesis, although occasionally, even this has produced a false negative.

 

After birth, diagnosis is best made by a buccal smear or a skin biopsy.  New array blood testing can be very accurate. The blood cells in the body quickly regenerate and the mosaic cells leave the bloodstream after just a few days, making a diagnosis via bloodwork inconclusive or falsely negative. Ask for a buccal smear if you have any reason to believe your child may have the traits of a syndrome.

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