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Recombinant chromosome 4 resulting from a maternal pericentric inversion in two sisters presenting consistent dysmorphic features

✍ Scribed by Agnieszka Stembalska; Izabela Laczmanska; Kamila Schlade-Bartusiak; Halina Czemarmazowicz; Marek Murawski; Maria Sasiadek

Publisher: Springer
Year: 2006
Tongue: English
Weight: 625 KB
Volume: 166
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-006-0214-0

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A recombinant X chromosome in a short statured girl resulting from a maternal pericentric inversion

✍ D. P. Duckett; I. D. Young 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 344 KB

A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chro