A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome

Achandira M. Udayakumar*, Adila Al-Kindy

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةArticleمراجعة النظراء


Monosomy 18p syndrome is a rare chromosomal disorder with varying phenotypic and clinical manifestations. Dysmorphism, growth delay, delayed speech and mental retardation are a few of the commonest features observed. The cytogenetic findings also vary and may comprise a pure deletion of the entire 18p arm or a deletion of a part of the 18p arm, if involved in a translocation with other chromosomes. Monosomy 18p may either occur by itself or with a structural alteration of the remaining chromosome 18, as a ring or as an isochromosome. The clinical presentation of this syndrome often overlaps with other syndromes. Establishing a cytogenetic diagnosis and understanding the location of the breakpoints is crucial for precise management and follow-up. We present here a rare case with mosaicism for a de novo deletion of 18p with isochromosome 18q in a boy born to a consanguineous Omani couple.

اللغة الأصليةEnglish
الصفحات (من إلى)141-146
عدد الصفحات6
دوريةJournal of Pediatric Genetics
مستوى الصوت2
رقم الإصدار3
المعرِّفات الرقمية للأشياء
حالة النشرPublished - 2013
منشور خارجيًانعم

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