AI Article Synopsis
- The study highlights the challenges in diagnosing Pallister-Killian syndrome due to its varied clinical signs, making it hard to identify based solely on appearance.
- The presence of tetrasomy 12p can be subtle, requiring testing of multiple tissue types, as mosaicism levels can vary significantly among samples.
- Prenatal cytogenetic studies are recommended if the syndrome is suspected in ultrasound to provide accurate information for genetic counseling, given the severe outcomes for affected individuals.
Article Abstract
The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.
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