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PubMed · 3631780

[Partial trisomy 18q].

M T Darnaude·I López Pajares·A Delicado·E García Frias
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Abstract

Authors present a new case with partial trisomy for long arms of chromosome 18(q12-qter) resulting from a balanced translocation t(4;18) on her mother. Comparing clinical features of our patient with that of other reported cases with the same trisomic segment, we can deduce that most important characteristics on this syndrome are: psychomotor and grow retardation, congenital heart disease, dolicocephaly, low set and malformed ears, micrognathia, short neck with redundant skin and a longer survival than in total trisomy 18.

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Chromosome BandingChromosomes, Human, Pair 18FemaleHand Deformities, CongenitalHumansInfantKaryotypingPhenotypeSkullTrisomyCase ReportsEnglish AbstractJournal Article

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M T Darnaude, I López Pajares, A Delicado, E García Frias. 1987. [Partial trisomy 18q].. https://pubmed.ncbi.nlm.nih.gov/3631780/

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