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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalitie...

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Hlavní autoři: Pivnick, E K, Qumsiyeh, M B, Tharapel, A T, Summitt, J B, Wilroy, R S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1990
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017204/
https://ncbi.nlm.nih.gov/pubmed/2213846
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