TY - JOUR
T1 - A rare case of de novo mosaicism
T2 - Deletion 18p and isochromosome 18q syndrome
AU - Udayakumar, Achandira M.
AU - Al-Kindy, Adila
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - 18p- syndrome
KW - De Grouchy syndrome
KW - Monosomy 18p syndrome
KW - Mosaic 18p-/i(18q) syndrome
KW - Trisomy 18q syndrome
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U2 - 10.3233/PGE-13058
DO - 10.3233/PGE-13058
M3 - Article
C2 - 27625852
AN - SCOPUS:85013594956
SN - 2146-4596
VL - 2
SP - 141
EP - 146
JO - Journal of Pediatric Genetics
JF - Journal of Pediatric Genetics
IS - 3
ER -